Canonical Allele Identifier: CA2136414875

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909913G= , CM000676.2:g.50909913G=	GRCh38
NC_000014.8:g.51376631G= , CM000676.1:g.51376631G=	GRCh37
NC_000014.7:g.50446381G=	NCBI36
NG_012796.1:g.39618C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2159C= MANE Select	ENSP00000216392.7:p.Ala720=
ENST00000216392.7:c.2159C=	ENSP00000216392.7:p.Ala720=
ENST00000532107.2:n.332C=
ENST00000532462.5:c.2159C=	ENSP00000431657.1:p.Ala720=
ENST00000544180.6:c.2057C=	ENSP00000443787.1:p.Ala686=
NM_001163940.1:c.2057C=	NP_001157412.1:p.Ala686=
NM_002863.4:c.2159C=	NP_002854.3:p.Ala720=
NM_002863.5:c.2159C= MANE Select	NP_002854.3:p.Ala720=
NM_001163940.2:c.2057C=	NP_001157412.1:p.Ala686=