Canonical Allele Identifier: CA340637218

Gene: PGM1

Linked Data

• gnomAD v4: 1-63638763-C-G
• MyVariant Identifiers: chr1:g.64104434C>G (hg19) ; chr1:g.63638763C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63638763C>G , CM000663.2:g.63638763C>G	GRCh38
NC_000001.10:g.64104434C>G , CM000663.1:g.64104434C>G	GRCh37
NC_000001.9:g.63877022C>G	NCBI36
NG_016966.1:g.50488C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.1107C>G MANE Select	ENSP00000360125.3:p.Ser369Arg
ENST00000650546.1:c.1107C>G	ENSP00000497812.1:p.Ser369Arg
ENST00000371083.4:c.1161C>G	ENSP00000360124.4:p.Ser387Arg
ENST00000371084.7:c.1107C>G	ENSP00000360125.3:p.Ser369Arg
ENST00000540265.5:c.516C>G	ENSP00000443449.1:p.Ser172Arg
NM_001172818.1:c.1161C>G	NP_001166289.1:p.Ser387Arg
NM_001172819.1:c.516C>G	NP_001166290.1:p.Ser172Arg
NM_002633.2:c.1107C>G	NP_002624.2:p.Ser369Arg
NM_002633.3:c.1107C>G MANE Select	NP_002624.2:p.Ser369Arg
NM_001172819.2:c.516C>G	NP_001166290.1:p.Ser172Arg