Canonical Allele Identifier: CA2136414856

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909893A= , CM000676.2:g.50909893A=	GRCh38
NC_000014.8:g.51376611A= , CM000676.1:g.51376611A=	GRCh37
NC_000014.7:g.50446361A=	NCBI36
NG_012796.1:g.39638T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2177+2T= MANE Select	ENSP00000216392.7:n.2177+2T=
ENST00000216392.7:c.2177+2T=	ENSP00000216392.7:n.2177+2T=
ENST00000532107.2:n.350+2T=
ENST00000532462.5:c.2177+2T=	ENSP00000431657.1:n.2177+2T=
ENST00000544180.6:c.2075+2T=	ENSP00000443787.1:n.2075+2T=
NM_001163940.1:c.2075+2T=	NP_001157412.1:n.2075+2T=
NM_002863.4:c.2177+2T=	NP_002854.3:n.2177+2T=
NM_002863.5:c.2177+2T= MANE Select	NP_002854.3:n.2177+2T=
NM_001163940.2:c.2075+2T=	NP_001157412.1:n.2075+2T=