Canonical Allele Identifier: CA23833067

Gene: PGM1

Linked Data

• dbSNP Id: rs376501061
• gnomAD v3: 1-63648492-C-G
• gnomAD v4: 1-63648492-C-G
• MyVariant Identifiers: chr1:g.64114163C>G (hg19) ; chr1:g.63648492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648492C>G , CM000663.2:g.63648492C>G	GRCh38
NC_000001.10:g.64114163C>G , CM000663.1:g.64114163C>G	GRCh37
NC_000001.9:g.63886751C>G	NCBI36
NG_016966.1:g.60217C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.1145-25C>G MANE Select	ENSP00000360125.3:n.1145-25C>G
ENST00000650546.1:c.1145-25C>G	ENSP00000497812.1:n.1145-25C>G
ENST00000371083.4:c.1199-25C>G	ENSP00000360124.4:n.1199-25C>G
ENST00000371084.7:c.1145-25C>G	ENSP00000360125.3:n.1145-25C>G
ENST00000540265.5:c.554-25C>G	ENSP00000443449.1:n.554-25C>G
NM_001172818.1:c.1199-25C>G	NP_001166289.1:n.1199-25C>G
NM_001172819.1:c.554-25C>G	NP_001166290.1:n.554-25C>G
NM_002633.2:c.1145-25C>G	NP_002624.2:n.1145-25C>G
NM_002633.3:c.1145-25C>G MANE Select	NP_002624.2:n.1145-25C>G
NM_001172819.2:c.554-25C>G	NP_001166290.1:n.554-25C>G