Canonical Allele Identifier: CA389697844

Gene: PYGL

Linked Data

• dbSNP Id: rs1434995735
• gnomAD v2: 14-51404540-A-G
• gnomAD v4: 14-50937822-A-G
• MyVariant Identifiers: chr14:g.51404540A>G (hg19) ; chr14:g.50937822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50937822A>G , CM000676.2:g.50937822A>G	GRCh38
NC_000014.8:g.51404540A>G , CM000676.1:g.51404540A>G	GRCh37
NC_000014.7:g.50474290A>G	NCBI36
NG_012796.1:g.11709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.259T>C MANE Select	ENSP00000216392.7:p.Ser87Pro
ENST00000216392.7:c.259T>C	ENSP00000216392.7:p.Ser87Pro
ENST00000530336.2:n.326T>C
ENST00000532462.5:c.259T>C	ENSP00000431657.1:p.Ser87Pro
ENST00000544180.6:c.244-2637T>C	ENSP00000443787.1:n.244-2637T>C
NM_001163940.1:c.244-2637T>C	NP_001157412.1:n.244-2637T>C
NM_002863.4:c.259T>C	NP_002854.3:p.Ser87Pro
NM_002863.5:c.259T>C MANE Select	NP_002854.3:p.Ser87Pro
NM_001163940.2:c.244-2637T>C	NP_001157412.1:n.244-2637T>C