Canonical Allele Identifier: CA389678891

Gene: PYGL

Linked Data

• dbSNP Id: rs1263526588
• gnomAD v3: 14-50905449-T-A
• gnomAD v4: 14-50905449-T-A
• MyVariant Identifiers: chr14:g.51372167T>A (hg19) ; chr14:g.50905449T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50905449T>A , CM000676.2:g.50905449T>A	GRCh38
NC_000014.8:g.51372167T>A , CM000676.1:g.51372167T>A	GRCh37
NC_000014.7:g.50441917T>A	NCBI36
NG_012796.1:g.44082A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.2487A>T MANE Select	ENSP00000216392.7:p.Glu829Asp
ENST00000216392.7:c.2487A>T	ENSP00000216392.7:p.Glu829Asp
ENST00000532462.5:c.2379+2822A>T	ENSP00000431657.1:n.2379+2822A>T
ENST00000544180.6:c.2385A>T	ENSP00000443787.1:p.Glu795Asp
NM_001163940.1:c.2385A>T	NP_001157412.1:p.Glu795Asp
NM_002863.4:c.2487A>T	NP_002854.3:p.Glu829Asp
NM_002863.5:c.2487A>T MANE Select	NP_002854.3:p.Glu829Asp
NM_001163940.2:c.2385A>T	NP_001157412.1:p.Glu795Asp