Canonical Allele Identifier: CA2136434935

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937819G= , CM000676.2:g.50937819G=	GRCh38
NC_000014.8:g.51404537G= , CM000676.1:g.51404537G=	GRCh37
NC_000014.7:g.50474287G=	NCBI36
NG_012796.1:g.11712C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.262C= MANE Select	ENSP00000216392.7:p.Leu88=
ENST00000216392.7:c.262C=	ENSP00000216392.7:p.Leu88=
ENST00000530336.2:n.329C=
ENST00000532462.5:c.262C=	ENSP00000431657.1:p.Leu88=
ENST00000544180.6:c.244-2634C=	ENSP00000443787.1:n.244-2634C=
NM_001163940.1:c.244-2634C=	NP_001157412.1:n.244-2634C=
NM_002863.4:c.262C=	NP_002854.3:p.Leu88=
NM_002863.5:c.262C= MANE Select	NP_002854.3:p.Leu88=
NM_001163940.2:c.244-2634C=	NP_001157412.1:n.244-2634C=