Canonical Allele Identifier: CA389679020

Gene: PYGL

Linked Data

• dbSNP Id: rs1380862449
• gnomAD v2: 14-51372198-T-C
• gnomAD v4: 14-50905480-T-C
• MyVariant Identifiers: chr14:g.51372198T>C (hg19) ; chr14:g.50905480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905480T>C , CM000676.2:g.50905480T>C	GRCh38
NC_000014.8:g.51372198T>C , CM000676.1:g.51372198T>C	GRCh37
NC_000014.7:g.50441948T>C	NCBI36
NG_012796.1:g.44051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2456A>G MANE Select	ENSP00000216392.7:p.Lys819Arg
ENST00000216392.7:c.2456A>G	ENSP00000216392.7:p.Lys819Arg
ENST00000532462.5:c.2379+2791A>G	ENSP00000431657.1:n.2379+2791A>G
ENST00000544180.6:c.2354A>G	ENSP00000443787.1:p.Lys785Arg
NM_001163940.1:c.2354A>G	NP_001157412.1:p.Lys785Arg
NM_002863.4:c.2456A>G	NP_002854.3:p.Lys819Arg
NM_002863.5:c.2456A>G MANE Select	NP_002854.3:p.Lys819Arg
NM_001163940.2:c.2354A>G	NP_001157412.1:p.Lys785Arg