Canonical Allele Identifier: CA2136414933

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50909968C= , CM000676.2:g.50909968C=	GRCh38
NC_000014.8:g.51376686C= , CM000676.1:g.51376686C=	GRCh37
NC_000014.7:g.50446436C=	NCBI36
NG_012796.1:g.39563G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2104G= MANE Select	ENSP00000216392.7:p.Glu702=
ENST00000216392.7:c.2104G=	ENSP00000216392.7:p.Glu702=
ENST00000532107.2:n.277G=
ENST00000532462.5:c.2104G=	ENSP00000431657.1:p.Glu702=
ENST00000544180.6:c.2002G=	ENSP00000443787.1:p.Glu668=
NM_001163940.1:c.2002G=	NP_001157412.1:p.Glu668=
NM_002863.4:c.2104G=	NP_002854.3:p.Glu702=
NM_002863.5:c.2104G= MANE Select	NP_002854.3:p.Glu702=
NM_001163940.2:c.2002G=	NP_001157412.1:p.Glu668=