Human (GRCh38.p14)
Description

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 [Source:HGNC Symbol;Acc:HGNC:5163]

Gene Synonyms

BLOC3S1, HPS

Location
About this transcript

This transcript has 19 exons, is associated with 13185 variant alleles and maps to 734 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000361490.9HPS1-2033703700aaENSP00000355310.4
 
Protein coding
CCDS7475Q92902-1 NM_000195.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000699134.1HPS1-2333972786aaENSP00000514151.1
 
Protein coding
A0A8V8TPJ1 -GENCODE basic
ENST00000325103.10HPS1-2013703700aaENSP00000326649.6
 
Protein coding
CCDS7475Q92902-1 -GENCODE basicAPPRIS P1TSL:5
ENST00000699125.1HPS1-2243652710aaENSP00000514146.1
 
Protein coding
A0A8V8TPI6 -GENCODE basic
ENST00000699142.1HPS1-2413644700aaENSP00000514159.1
 
Protein coding
CCDS7475Q92902-1 -GENCODE basicAPPRIS P1
ENST00000699140.1HPS1-2393625667aaENSP00000514157.1
 
Protein coding
CCDS91316Q92902-2 -GENCODE basic
ENST00000699131.1HPS1-2303544644aaENSP00000514149.1
 
Protein coding
A0A8V8TP64 -GENCODE basic
ENST00000699136.1HPS1-2353535667aaENSP00000514153.1
 
Protein coding
CCDS91316Q92902-2 -GENCODE basic
ENST00000699139.1HPS1-2383463613aaENSP00000514156.1
 
Protein coding
CCDS91314A0A8V8TN94 -GENCODE basic
ENST00000699133.1HPS1-2323445611aaENSP00000514150.1
 
Protein coding
A0A8V8TN90 -GENCODE basic
ENST00000699137.1HPS1-2363331571aaENSP00000514154.1
 
Protein coding
A0A8V8TN79 -GENCODE basic
ENST00000699118.1HPS1-2173313571aaENSP00000514140.1
 
Protein coding
A0A8V8TN79 -GENCODE basic
ENST00000699122.1HPS1-2213121509aaENSP00000514144.1
 
Protein coding
A0A8V8TP59 -GENCODE basic
ENST00000699146.1HPS1-2452394663aaENSP00000514164.1
 
Protein coding
A0A8V8TN99 -GENCODE basic
ENST00000338546.9HPS1-2021580324aaENSP00000343638.5
 
Protein coding
CCDS7476Q92902-3 -GENCODE basicTSL:1
ENST00000414009.2HPS1-2041498291aaENSP00000392462.2
 
Protein coding
CCDS91315H0Y4K4 -GENCODE basicTSL:2
ENST00000699112.1HPS1-2114110580aaENSP00000514137.1
 
Nonsense mediated decay
CCDS91313A0A8V8TMQ9 --
ENST00000699123.1HPS1-2223835122aaENSP00000514145.1
 
Nonsense mediated decay
A0A8V8TN86 --
ENST00000699129.1HPS1-2283811291aaENSP00000514148.1
 
Nonsense mediated decay
CCDS91315H0Y4K4 --
ENST00000699128.1HPS1-2273705291aaENSP00000514147.1
 
Nonsense mediated decay
CCDS91315H0Y4K4 --
ENST00000699138.1HPS1-2373580132aaENSP00000514155.1
 
Nonsense mediated decay
A0A0S2Z4H4 --
ENST00000699121.1HPS1-2203519136aaENSP00000514143.1
 
Nonsense mediated decay
A0A8V8TMR9 --
ENST00000699144.1HPS1-2433511132aaENSP00000514161.1
 
Nonsense mediated decay
A0A0S2Z4H4 --
ENST00000699141.1HPS1-2403479132aaENSP00000514158.1
 
Nonsense mediated decay
A0A0S2Z4H4 --
ENST00000699143.1HPS1-2423478132aaENSP00000514160.1
 
Nonsense mediated decay
A0A0S2Z4H4 --
ENST00000699120.1HPS1-219343174aaENSP00000514142.1
 
Nonsense mediated decay
A0A8V8TMR7 --
ENST00000699119.1HPS1-2183352132aaENSP00000514141.1
 
Nonsense mediated decay
A0A0S2Z4H4 --
ENST00000699135.1HPS1-2343347140aaENSP00000514152.1
 
Nonsense mediated decay
A0A8V8TMS4 --
ENST00000699113.1HPS1-2123307140aaENSP00000514138.1
 
Nonsense mediated decay
A0A8V8TMS4 --
ENST00000699145.1HPS1-2443156700aaENSP00000514162.1
 
Nonsense mediated decay
CCDS7475Q92902-1 --
ENST00000699115.1HPS1-2142883377aaENSP00000514139.1
 
Nonsense mediated decay
A0A8V8TP54 --
ENST00000467246.5HPS1-2072791194aaENSP00000514163.1
 
Nonsense mediated decay
A0A8V8TP71 -TSL:1
ENST00000699147.1HPS1-2462492132aaENSP00000514165.1
 
Nonsense mediated decay
A0A0S2Z4H4 --
ENST00000699153.1HPS1-2521382132aaENSP00000514166.1
 
Nonsense mediated decay
A0A0S2Z4H4 --
ENST00000699114.1HPS1-2132823No protein-
 
Protein coding CDS not defined
---
ENST00000465957.1HPS1-206922No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000498219.5HPS1-210845No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000699157.1HPS1-256750No protein-
 
Protein coding CDS not defined
---
ENST00000699116.1HPS1-2155937No protein-
 
Retained intron
---
ENST00000699132.1HPS1-2315764No protein-
 
Retained intron
---
ENST00000699126.1HPS1-2255450No protein-
 
Retained intron
---
ENST00000699124.1HPS1-2234872No protein-
 
Retained intron
---
ENST00000699130.1HPS1-2294648No protein-
 
Retained intron
---
ENST00000699117.1HPS1-2164121No protein-
 
Retained intron
---
ENST00000699127.1HPS1-2263796No protein-
 
Retained intron
---
ENST00000699149.1HPS1-2483649No protein-
 
Retained intron
---
ENST00000699152.1HPS1-2512874No protein-
 
Retained intron
---
ENST00000699156.1HPS1-2552804No protein-
 
Retained intron
---
ENST00000699151.1HPS1-2502782No protein-
 
Retained intron
---
ENST00000699155.1HPS1-2542626No protein-
 
Retained intron
---
ENST00000699154.1HPS1-2531608No protein-
 
Retained intron
---
ENST00000699158.1HPS1-2571576No protein-
 
Retained intron
---
ENST00000699148.1HPS1-2471563No protein-
 
Retained intron
---
ENST00000699150.1HPS1-2491553No protein-
 
Retained intron
---
ENST00000478087.5HPS1-209971No protein-
 
Retained intron
--TSL:5
ENST00000474873.5HPS1-208698No protein-
 
Retained intron
--TSL:2
ENST00000462743.1HPS1-205431No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 19, Coding exons: 5, Transcript length: 2,791 bps, Translation length: 194 residues

Transcript Support Level (TSL)

TSL:1

Version

ENST00000467246.5

Type

Nonsense mediated decay

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.