Human (GRCh38.p14)
Description

peripheral myelin protein 22 [Source:HGNC Symbol;Acc:HGNC:9118]

Gene Synonyms

CMT1A, GAS3, HMSNIA, HNPP, SP110

Location
About this transcript

This transcript has 2 exons, is associated with 2507 variant alleles and maps to 121 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000312280.9PMP22-2011828160aaENSP00000308937.3
 
Protein coding
CCDS11168Q01453 Q6FH25 NM_000304.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000426385.4PMP22-2044161125aaENSP00000409824.3
 
Protein coding
J3KQW0 -GENCODE basicTSL:2
ENST00000674673.1PMP22-2152423160aaENSP00000501804.1
 
Protein coding
CCDS11168Q01453 Q6FH25 -GENCODE basicAPPRIS P1
ENST00000675808.1PMP22-2232047160aaENSP00000502310.1
 
Protein coding
CCDS11168Q01453 Q6FH25 -GENCODE basicAPPRIS P1
ENST00000646419.2PMP22-2131855118aaENSP00000494871.1
 
Protein coding
CCDS82078A8MU75 -GENCODE basic
ENST00000612492.5PMP22-2101828160aaENSP00000484631.1
 
Protein coding
CCDS11168Q01453 Q6FH25 -GENCODE basicAPPRIS P1TSL:3
ENST00000675551.1PMP22-2221822165aaENSP00000501945.1
 
Protein coding
A0A6Q8PFS0 -GENCODE basic
ENST00000676221.1PMP22-2301819160aaENSP00000502601.1
 
Protein coding
CCDS11168Q01453 Q6FH25 -GENCODE basicAPPRIS P1
ENST00000395938.7PMP22-2031803217aaENSP00000379269.3
 
Protein coding
A0A6Q8PF08 -GENCODE basicTSL:1
ENST00000395936.7PMP22-2021796118aaENSP00000379268.1
 
Protein coding
CCDS82078A8MU75 -GENCODE basicTSL:3
ENST00000675950.1PMP22-2261789160aaENSP00000501546.1
 
Protein coding
CCDS11168Q01453 Q6FH25 -GENCODE basicAPPRIS P1
ENST00000675819.1PMP22-2241774160aaENSP00000502018.1
 
Protein coding
CCDS11168Q01453 Q6FH25 -GENCODE basicAPPRIS P1
ENST00000676329.1PMP22-2311757194aaENSP00000501698.1
 
Protein coding
A0A6Q8PF92 -GENCODE basic
ENST00000674651.1PMP22-2141755160aaENSP00000501727.1
 
Protein coding
CCDS11168Q01453 Q6FH25 -GENCODE basicAPPRIS P1
ENST00000644020.1PMP22-2121738118aaENSP00000496522.1
 
Protein coding
CCDS82078A8MU75 -GENCODE basic
ENST00000580584.3PMP22-209171692aaENSP00000464468.3
 
Protein coding
J3KT36 -GENCODE basicTSL:3
ENST00000675854.1PMP22-225166792aaENSP00000502324.1
 
Protein coding
J3KT36 -GENCODE basic
ENST00000674947.1PMP22-2191662217aaENSP00000501580.1
 
Protein coding
A0A6Q8PF08 -GENCODE basic
ENST00000494511.7PMP22-207161692aaENSP00000462782.2
 
Protein coding
J3KT36 -GENCODE basicTSL:1
ENST00000676161.1PMP22-2281575113aaENSP00000501766.1
 
Protein coding
A0A6Q8PFD5 -GENCODE basic
ENST00000674707.1PMP22-216154392aaENSP00000502250.1
 
Protein coding
J3KT36 -GENCODE basic
ENST00000674868.1PMP22-2171312160aaENSP00000502835.1
 
Protein coding
CCDS11168Q01453 Q6FH25 -GENCODE basicAPPRIS P1
ENST00000675350.1PMP22-2211058160aaENSP00000501557.1
 
Protein coding
CCDS11168Q01453 Q6FH25 -GENCODE basicAPPRIS P1
ENST00000643451.2PMP22-2112016129aaENSP00000494628.1
 
Nonsense mediated decay
A0A2R8Y5L5 --
ENST00000431343.1PMP22-2051773No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000674871.1PMP22-2181630No protein-
 
Protein coding CDS not defined
---
ENST00000676002.1PMP22-2271614No protein-
 
Protein coding CDS not defined
---
ENST00000675197.1PMP22-2201254No protein-
 
Protein coding CDS not defined
---
ENST00000676194.1PMP22-229643No protein-
 
Protein coding CDS not defined
---
ENST00000471150.3PMP22-206896No protein-
 
Retained intron
--TSL:2
ENST00000580497.1PMP22-208576No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 2, Coding exons: 0, Transcript length: 896 bps,

Transcript Support Level (TSL)

TSL:2

Version

ENST00000471150.3

Type

Retained intron

Annotation Method

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