Canonical Allele Identifier: CA389682626

Gene: PYGL

Linked Data

• ClinVar Variation Id: 1363739
• ClinVar RCV Id: RCV001937150
• dbSNP Id: rs1241000496
• gnomAD v4: 14-50910058-T-G
• MyVariant Identifiers: chr14:g.51376776T>G (hg19) ; chr14:g.50910058T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910058T>G , CM000676.2:g.50910058T>G	GRCh38
NC_000014.8:g.51376776T>G , CM000676.1:g.51376776T>G	GRCh37
NC_000014.7:g.50446526T>G	NCBI36
NG_012796.1:g.39473A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216392.8:c.2014A>C MANE Select	ENSP00000216392.7:p.Thr672Pro
ENST00000216392.7:c.2014A>C	ENSP00000216392.7:p.Thr672Pro
ENST00000532107.2:n.187A>C
ENST00000532462.5:c.2014A>C	ENSP00000431657.1:p.Thr672Pro
ENST00000544180.6:c.1912A>C	ENSP00000443787.1:p.Thr638Pro
NM_001163940.1:c.1912A>C	NP_001157412.1:p.Thr638Pro
NM_002863.4:c.2014A>C	NP_002854.3:p.Thr672Pro
NM_002863.5:c.2014A>C MANE Select	NP_002854.3:p.Thr672Pro
NM_001163940.2:c.1912A>C	NP_001157412.1:p.Thr638Pro