Canonical Allele Identifier: CA486653711

Gene: PYGL

Linked Data

• gnomAD v4: 14-50944212-C-T
• MyVariant Identifiers: chr14:g.51410930C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50944212C>T , CM000676.2:g.50944212C>T	GRCh38
NC_000014.8:g.51410930C>T , CM000676.1:g.51410930C>T	GRCh37
NC_000014.7:g.50480680C>T	NCBI36
NG_012796.1:g.5319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.192G>A MANE Select	ENSP00000216392.7:p.Leu64=
ENST00000216392.7:c.192G>A	ENSP00000216392.7:p.Leu64=
ENST00000530336.2:n.259G>A
ENST00000532462.5:c.192G>A	ENSP00000431657.1:p.Leu64=
ENST00000544180.6:c.192G>A	ENSP00000443787.1:p.Leu64=
NM_001163940.1:c.192G>A	NP_001157412.1:p.Leu64=
NM_002863.4:c.192G>A	NP_002854.3:p.Leu64=
NM_002863.5:c.192G>A MANE Select	NP_002854.3:p.Leu64=
NM_001163940.2:c.192G>A	NP_001157412.1:p.Leu64=