Canonical Allele Identifier: CA2136411174
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50905414G= , CM000676.2:g.50905414G= GRCh38
NC_000014.8:g.51372132G= , CM000676.1:g.51372132G= GRCh37
NC_000014.7:g.50441882G= NCBI36
NG_012796.1:g.44117C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.2522C= MANE Select ENSP00000216392.7:p.Ser841=
ENST00000216392.7:c.2522C= ENSP00000216392.7:p.Ser841=
ENST00000532462.5:c.2379+2857C= ENSP00000431657.1:n.2379+2857C=
ENST00000544180.6:c.2420C= ENSP00000443787.1:p.Ser807=
NM_001163940.1:c.2420C= NP_001157412.1:p.Ser807=
NM_002863.4:c.2522C= NP_002854.3:p.Ser841=
NM_002863.5:c.2522C= MANE Select NP_002854.3:p.Ser841=
NM_001163940.2:c.2420C= NP_001157412.1:p.Ser807=