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 5 exons, is annotated with 20 domains and features, is associated with 13654 variant alleles and maps to 379 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: 5, Coding exons: 4, Transcript length: 1,774 bps, Translation length: 160 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q01453

CCDS

This transcript is a member of the Human CCDS set: CCDS11168

Version

ENST00000675819.1

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.