Canonical Allele Identifier: CA2136411205

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905434C= , CM000676.2:g.50905434C=	GRCh38
NC_000014.8:g.51372152C= , CM000676.1:g.51372152C=	GRCh37
NC_000014.7:g.50441902C=	NCBI36
NG_012796.1:g.44097G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2502G= MANE Select	ENSP00000216392.7:p.Lys834=
ENST00000216392.7:c.2502G=	ENSP00000216392.7:p.Lys834=
ENST00000532462.5:c.2379+2837G=	ENSP00000431657.1:n.2379+2837G=
ENST00000544180.6:c.2400G=	ENSP00000443787.1:p.Lys800=
NM_001163940.1:c.2400G=	NP_001157412.1:p.Lys800=
NM_002863.4:c.2502G=	NP_002854.3:p.Lys834=
NM_002863.5:c.2502G= MANE Select	NP_002854.3:p.Lys834=
NM_001163940.2:c.2400G=	NP_001157412.1:p.Lys800=