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 9 exons, is associated with 8866 variant alleles and maps to 248 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: 9, Coding exons: 0, Transcript length: 845 bps,

Transcript Support Level (TSL)

TSL:5

Version

ENST00000498219.5

Type

Protein coding CDS not defined

Annotation Method

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