Human (GRCh38.p14)
Description

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

Gene Synonyms

ATHL1, FLJ22635

Location
About this transcript

This transcript has 6 exons, is associated with 1810 variant alleles and maps to 113 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: 6, Coding exons: 5, Transcript length: 734 bps, Translation length: 203 residues

Transcript Support Level (TSL)

TSL:5

Incomplete CDS

CDS 5' incomplete

Version

ENST00000482937.2

Type

Nonsense mediated decay

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.