Canonical Allele Identifier: CA2136411073

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905328G= , CM000676.2:g.50905328G=	GRCh38
NC_000014.8:g.51372046G= , CM000676.1:g.51372046G=	GRCh37
NC_000014.7:g.50441796G=	NCBI36
NG_012796.1:g.44203C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.*64C= MANE Select	ENSP00000216392.7:n.*64C=
ENST00000216392.7:c.*64C=	ENSP00000216392.7:n.*64C=
ENST00000532462.5:c.2379+2943C=	ENSP00000431657.1:n.2379+2943C=
ENST00000544180.6:c.*64C=	ENSP00000443787.1:n.*64C=
NM_001163940.1:c.*64C=	NP_001157412.1:n.*64C=
NM_002863.4:c.*64C=	NP_002854.3:n.*64C=
NM_002863.5:c.*64C= MANE Select	NP_002854.3:n.*64C=
NM_001163940.2:c.*64C=	NP_001157412.1:n.*64C=