Canonical Allele Identifier: CA2136438417

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944168C= , CM000676.2:g.50944168C=	GRCh38
NC_000014.8:g.51410886C= , CM000676.1:g.51410886C=	GRCh37
NC_000014.7:g.50480636C=	NCBI36
NG_012796.1:g.5363G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.236G= MANE Select	ENSP00000216392.7:p.Cys79=
ENST00000216392.7:c.236G=	ENSP00000216392.7:p.Cys79=
ENST00000530336.2:n.303G=
ENST00000532462.5:c.236G=	ENSP00000431657.1:p.Cys79=
ENST00000544180.6:c.236G=	ENSP00000443787.1:p.Cys79=
NM_001163940.1:c.236G=	NP_001157412.1:p.Cys79=
NM_002863.4:c.236G=	NP_002854.3:p.Cys79=
NM_002863.5:c.236G= MANE Select	NP_002854.3:p.Cys79=
NM_001163940.2:c.236G=	NP_001157412.1:p.Cys79=