Canonical Allele Identifier: CA7183092

Gene: PYGL

Linked Data

• dbSNP Id: rs781257219
• ExAC: 14:51372177 C / T
• gnomAD v2: 14-51372177-C-T
• gnomAD v4: 14-50905459-C-T
• MyVariant Identifiers: chr14:g.51372177C>T (hg19) ; chr14:g.50905459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905459C>T , CM000676.2:g.50905459C>T	GRCh38
NC_000014.8:g.51372177C>T , CM000676.1:g.51372177C>T	GRCh37
NC_000014.7:g.50441927C>T	NCBI36
NG_012796.1:g.44072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2477G>A MANE Select	ENSP00000216392.7:p.Trp826Ter
ENST00000216392.7:c.2477G>A	ENSP00000216392.7:p.Trp826Ter
ENST00000532462.5:c.2379+2812G>A	ENSP00000431657.1:n.2379+2812G>A
ENST00000544180.6:c.2375G>A	ENSP00000443787.1:p.Trp792Ter
NM_001163940.1:c.2375G>A	NP_001157412.1:p.Trp792Ter
NM_002863.4:c.2477G>A	NP_002854.3:p.Trp826Ter
NM_002863.5:c.2477G>A MANE Select	NP_002854.3:p.Trp826Ter
NM_001163940.2:c.2375G>A	NP_001157412.1:p.Trp792Ter