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

Chromosome 17: 15,133,095-15,168,643 reverse strand.

GRCh37:CM000679.1

About this gene

This gene has 8 transcripts (splice variants), 3 paralogues and is associated with 11 phenotypes.

Show/hide columns (1 hidden)
  • Transcript ID
  • Name
  • bp
  • Protein
  • Translation ID
  • Biotype
  • CCDS
  • UniProt Match
  • RefSeq
  • Flags
Transcript IDNamebpProteinBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000395938.2PMP22-0011817160aa
 
Protein coding
CCDS11168B4DUL1 Q01453 Q6FH25
NM_153321.2Ensembl CanonicalGENCODE Basic
ENST00000312280.3PMP22-0021810160aa
 
Protein coding
CCDS11168B4DUL1 Q01453 Q6FH25
NM_153322.2GENCODE Basic
ENST00000494511.1PMP22-004872161aa
 
Protein coding
J3KT36 J3QS08 -GENCODE Basic
ENST00000395936.1PMP22-003816118aa
 
Protein coding
A8MU75 -GENCODE Basic
ENST00000426385.3PMP22-008571125aa
 
Protein coding
J3KQW0 -GENCODE Basic
ENST00000580584.1PMP22-00642851aa
 
Protein coding
J3QS08 -CDS 3' incomplete
ENST00000471150.2PMP22-005637No protein
 
Retained intron
---
ENST00000580497.1PMP22-007576No protein
 
Retained intron
---
As of the latest update in March 2020 we are not supporting data for species other than human on this GRCh37 site and the view you wish to use is disabled.

You can read more about why we have done this on our blog.

You can still view this page on the following archive resources:

1. The Ensembl 75 archive represents a code and data freeze taken in February 2014.

2. The GRCh37 archive represents a code and data freeze taken in January 2019.