Human (GRCh38.p14)
Description

atrophin 1 [Source:HGNC Symbol;Acc:HGNC:3033]

Gene Synonyms

B37, D12S755E, DRPLA

Location

Chromosome 12: 6,924,463-6,942,321 forward strand.

GRCh38:CM000674.2

About this gene

This gene has 4 transcripts (splice variants), 189 orthologues, 1 paralogue and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000396684.3ATN1-20247021190aaENSP00000379915.2
 
Protein coding
CCDS31734P54259 NM_001940.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000356654.8ATN1-20143511190aaENSP00000349076.3
 
Protein coding
CCDS31734P54259 -GENCODE basicAPPRIS P1TSL:1
ENST00000537488.1ATN1-203899No protein-
 
Retained intron
--TSL:2
ENST00000541029.1ATN1-204855No protein-
 
Retained intron
--TSL:2