Canonical Allele Identifier: CA340646115

Gene: PGM1

Linked Data

• ClinVar Variation Id: 1500809
• ClinVar RCV Id: RCV002015933
• dbSNP Id: rs1213089649
• gnomAD v2: 1-64095205-A-G
• gnomAD v4: 1-63629534-A-G
• MyVariant Identifiers: chr1:g.64095205A>G (hg19) ; chr1:g.63629534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629534A>G , CM000663.2:g.63629534A>G	GRCh38
NC_000001.10:g.64095205A>G , CM000663.1:g.64095205A>G	GRCh37
NC_000001.9:g.63867793A>G	NCBI36
NG_016966.1:g.41259A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.356A>G MANE Select	ENSP00000360125.3:p.Asn119Ser
ENST00000650546.1:c.356A>G	ENSP00000497812.1:p.Asn119Ser
ENST00000371083.4:c.410A>G	ENSP00000360124.4:p.Asn137Ser
ENST00000371084.7:c.356A>G	ENSP00000360125.3:p.Asn119Ser
ENST00000540265.5:c.-236A>G	ENSP00000443449.1:n.-236A>G
NM_001172818.1:c.410A>G	NP_001166289.1:p.Asn137Ser
NM_001172819.1:c.-236A>G	NP_001166290.1:n.-236A>G
NM_002633.2:c.356A>G	NP_002624.2:p.Asn119Ser
NM_002633.3:c.356A>G MANE Select	NP_002624.2:p.Asn119Ser
NM_001172819.2:c.-236A>G	NP_001166290.1:n.-236A>G