Canonical Allele Identifier: CA340645459

Gene: PGM1

Linked Data

• dbSNP Id: rs150286818
• gnomAD v4: 1-63629431-C-G
• MyVariant Identifiers: chr1:g.64095102C>G (hg19) ; chr1:g.63629431C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629431C>G , CM000663.2:g.63629431C>G	GRCh38
NC_000001.10:g.64095102C>G , CM000663.1:g.64095102C>G	GRCh37
NC_000001.9:g.63867690C>G	NCBI36
NG_016966.1:g.41156C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.253C>G MANE Select	ENSP00000360125.3:p.Arg85Gly
ENST00000650546.1:c.253C>G	ENSP00000497812.1:p.Arg85Gly
ENST00000371083.4:c.307C>G	ENSP00000360124.4:p.Arg103Gly
ENST00000371084.7:c.253C>G	ENSP00000360125.3:p.Arg85Gly
ENST00000540265.5:c.-339C>G	ENSP00000443449.1:n.-339C>G
NM_001172818.1:c.307C>G	NP_001166289.1:p.Arg103Gly
NM_001172819.1:c.-339C>G	NP_001166290.1:n.-339C>G
NM_002633.2:c.253C>G	NP_002624.2:p.Arg85Gly
NM_002633.3:c.253C>G MANE Select	NP_002624.2:p.Arg85Gly
NM_001172819.2:c.-339C>G	NP_001166290.1:n.-339C>G