Canonical Allele Identifier: CA340638448

Gene: PGM1

Linked Data

• dbSNP Id: rs1649720980
• gnomAD v4: 1-63648634-G-A
• COSMIC: COSM2238804 ; COSM2238805
• MyVariant Identifiers: chr1:g.64114305G>A (hg19) ; chr1:g.63648634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648634G>A , CM000663.2:g.63648634G>A	GRCh38
NC_000001.10:g.64114305G>A , CM000663.1:g.64114305G>A	GRCh37
NC_000001.9:g.63886893G>A	NCBI36
NG_016966.1:g.60359G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1262G>A MANE Select	ENSP00000360125.3:p.Gly421Asp
ENST00000650546.1:c.1262G>A	ENSP00000497812.1:p.Gly421Asp
ENST00000371083.4:c.1316G>A	ENSP00000360124.4:p.Gly439Asp
ENST00000371084.7:c.1262G>A	ENSP00000360125.3:p.Gly421Asp
ENST00000540265.5:c.671G>A	ENSP00000443449.1:p.Gly224Asp
NM_001172818.1:c.1316G>A	NP_001166289.1:p.Gly439Asp
NM_001172819.1:c.671G>A	NP_001166290.1:p.Gly224Asp
NM_002633.2:c.1262G>A	NP_002624.2:p.Gly421Asp
NM_002633.3:c.1262G>A MANE Select	NP_002624.2:p.Gly421Asp
NM_001172819.2:c.671G>A	NP_001166290.1:p.Gly224Asp