Canonical Allele Identifier: CA389678908

Gene: PYGL

Linked Data

• ClinVar Variation Id: 1799525
• ClinVar RCV Id: RCV002444369
• MyVariant Identifiers: chr14:g.51372171A>C (hg19) ; chr14:g.50905453A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905453A>C , CM000676.2:g.50905453A>C	GRCh38
NC_000014.8:g.51372171A>C , CM000676.1:g.51372171A>C	GRCh37
NC_000014.7:g.50441921A>C	NCBI36
NG_012796.1:g.44078T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2483T>G MANE Select	ENSP00000216392.7:p.Val828Gly
ENST00000216392.7:c.2483T>G	ENSP00000216392.7:p.Val828Gly
ENST00000532462.5:c.2379+2818T>G	ENSP00000431657.1:n.2379+2818T>G
ENST00000544180.6:c.2381T>G	ENSP00000443787.1:p.Val794Gly
NM_001163940.1:c.2381T>G	NP_001157412.1:p.Val794Gly
NM_002863.4:c.2483T>G	NP_002854.3:p.Val828Gly
NM_002863.5:c.2483T>G MANE Select	NP_002854.3:p.Val828Gly
NM_001163940.2:c.2381T>G	NP_001157412.1:p.Val794Gly