Canonical Allele Identifier: CA2136438421

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944174T= , CM000676.2:g.50944174T=	GRCh38
NC_000014.8:g.51410892T= , CM000676.1:g.51410892T=	GRCh37
NC_000014.7:g.50480642T=	NCBI36
NG_012796.1:g.5357A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.230A= MANE Select	ENSP00000216392.7:p.Asp77=
ENST00000216392.7:c.230A=	ENSP00000216392.7:p.Asp77=
ENST00000530336.2:n.297A=
ENST00000532462.5:c.230A=	ENSP00000431657.1:p.Asp77=
ENST00000544180.6:c.230A=	ENSP00000443787.1:p.Asp77=
NM_001163940.1:c.230A=	NP_001157412.1:p.Asp77=
NM_002863.4:c.230A=	NP_002854.3:p.Asp77=
NM_002863.5:c.230A= MANE Select	NP_002854.3:p.Asp77=
NM_001163940.2:c.230A=	NP_001157412.1:p.Asp77=