Canonical Allele Identifier: CA7183824

Gene: PYGL

Linked Data

• ClinVar Variation Id: 2046541
• ClinVar RCV Id: RCV002926628 ; RCV003906304
• dbSNP Id: rs201633863
• ExAC: 14:51401856 T / C
• gnomAD v2: 14-51401856-T-C
• gnomAD v3: 14-50935138-T-C
• gnomAD v4: 14-50935138-T-C
• MyVariant Identifiers: chr14:g.51401856T>C (hg19) ; chr14:g.50935138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50935138T>C , CM000676.2:g.50935138T>C	GRCh38
NC_000014.8:g.51401856T>C , CM000676.1:g.51401856T>C	GRCh37
NC_000014.7:g.50471606T>C	NCBI36
NG_012796.1:g.14393A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.393A>G MANE Select	ENSP00000216392.7:p.Gly131=
ENST00000216392.7:c.393A>G	ENSP00000216392.7:p.Gly131=
ENST00000530336.2:n.460A>G
ENST00000532462.5:c.393A>G	ENSP00000431657.1:p.Gly131=
ENST00000544180.6:c.291A>G	ENSP00000443787.1:p.Gly97=
NM_001163940.1:c.291A>G	NP_001157412.1:p.Gly97=
NM_002863.4:c.393A>G	NP_002854.3:p.Gly131=
NM_002863.5:c.393A>G MANE Select	NP_002854.3:p.Gly131=
NM_001163940.2:c.291A>G	NP_001157412.1:p.Gly97=