Human (GRCh38.p14)
Description

protein-glucosylgalactosylhydroxylysine glucosidase [Source:HGNC Symbol;Acc:HGNC:26210]

Gene Synonyms

ATHL1, FLJ22635

Location
About this transcript

This transcript has 14 exons, is annotated with 8 domains and features, is associated with 4945 variant alleles and maps to 620 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000409548.7PGGHG-2033699737aaENSP00000387185.2
 
Protein coding
CCDS31322Q32M88-1 NM_025092.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000409479.5PGGHG-2023062764aaENSP00000387099.1
 
Protein coding
E7EMA9 -GENCODE basicTSL:5
ENST00000409655.5PGGHG-2042963489aaENSP00000386297.1
 
Protein coding
B8ZZ60 -GENCODE basicTSL:1
ENST00000397660.3PGGHG-201578193aaENSP00000380780.3
 
Protein coding
H3BM00 -TSL:5CDS 5' and 3' incomplete
ENST00000482937.2PGGHG-207734203aaENSP00000431881.1
 
Nonsense mediated decay
H0YCL6 -TSL:5CDS 5' incomplete
ENST00000474221.5PGGHG-2054418No protein-
 
Retained intron
--TSL:2
ENST00000476372.1PGGHG-2062879No protein-
 
Retained intron
--TSL:2
ENST00000529087.1PGGHG-208745No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 14, Coding exons: 13, Transcript length: 3,699 bps, Translation length: 737 residues

MANE

This MANE Select transcript contains ENSP00000387185 and matches to NM_025092.5 and NP_079368.3

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q32M88

CCDS

This transcript is a member of the Human CCDS set: CCDS31322

Transcript Support Level (TSL)

TSL:1

Version

ENST00000409548.7

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.