Human (GRCh37.p13)
Description

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

Gene Synonyms

CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110

Location
About this transcript

This transcript has 5 exons, is annotated with 19 domains and features, is associated with 14969 variant alleles and maps to 384 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000395938.2PMP22-0011817160aaENSP00000379269.2
 
Protein coding
CCDS11168B4DUL1 Q01453 Q6FH25
NM_153321.2GENCODE basic
ENST00000312280.3PMP22-0021810160aaENSP00000308937.3
 
Protein coding
CCDS11168B4DUL1 Q01453 Q6FH25
NM_153322.2GENCODE basic
ENST00000494511.1PMP22-004872161aaENSP00000462782.1
 
Protein coding
J3KT36 J3QS08 -GENCODE basic
ENST00000395936.1PMP22-003816118aaENSP00000379268.1
 
Protein coding
A8MU75 -GENCODE basic
ENST00000426385.3PMP22-008571125aaENSP00000409824.3
 
Protein coding
J3KQW0 -GENCODE basic
ENST00000580584.1PMP22-00642851aaENSP00000464468.1
 
Protein coding
J3QS08 -CDS 3' incomplete
ENST00000471150.2PMP22-005637No protein-
 
Retained intron
---
ENST00000580497.1PMP22-007576No protein-
 
Retained intron
---
Statistics

Exons: 5, Coding exons: 4, Transcript length: 1,810 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

ENST00000312280.3

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.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000130379 (version 3)
GENCODE basic gene

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