Canonical Allele Identifier: CA389679023

Gene: PYGL

Linked Data

• dbSNP Id: rs2142781860
• gnomAD v4: 14-50905481-T-C
• MyVariant Identifiers: chr14:g.51372199T>C (hg19) ; chr14:g.50905481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905481T>C , CM000676.2:g.50905481T>C	GRCh38
NC_000014.8:g.51372199T>C , CM000676.1:g.51372199T>C	GRCh37
NC_000014.7:g.50441949T>C	NCBI36
NG_012796.1:g.44050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2455A>G MANE Select	ENSP00000216392.7:p.Lys819Glu
ENST00000216392.7:c.2455A>G	ENSP00000216392.7:p.Lys819Glu
ENST00000532462.5:c.2379+2790A>G	ENSP00000431657.1:n.2379+2790A>G
ENST00000544180.6:c.2353A>G	ENSP00000443787.1:p.Lys785Glu
NM_001163940.1:c.2353A>G	NP_001157412.1:p.Lys785Glu
NM_002863.4:c.2455A>G	NP_002854.3:p.Lys819Glu
NM_002863.5:c.2455A>G MANE Select	NP_002854.3:p.Lys819Glu
NM_001163940.2:c.2353A>G	NP_001157412.1:p.Lys785Glu