Canonical Allele Identifier: CA2136421582

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50921038G= , CM000676.2:g.50921038G=	GRCh38
NC_000014.8:g.51387756G= , CM000676.1:g.51387756G=	GRCh37
NC_000014.7:g.50457506G=	NCBI36
NG_012796.1:g.28493C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.690C= MANE Select	ENSP00000216392.7:p.Pro230=
ENST00000216392.7:c.690C=	ENSP00000216392.7:p.Pro230=
ENST00000532462.5:c.690C=	ENSP00000431657.1:p.Pro230=
ENST00000544180.6:c.588C=	ENSP00000443787.1:p.Pro196=
ENST00000553872.1:n.491C=
NM_001163940.1:c.588C=	NP_001157412.1:p.Pro196=
NM_002863.4:c.690C=	NP_002854.3:p.Pro230=
NM_002863.5:c.690C= MANE Select	NP_002854.3:p.Pro230=
NM_001163940.2:c.588C=	NP_001157412.1:p.Pro196=