Canonical Allele Identifier: CA340645540

Gene: PGM1

Linked Data

• dbSNP Id: rs1649130146
• MyVariant Identifiers: chr1:g.64095118A>G (hg19) ; chr1:g.63629447A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629447A>G , CM000663.2:g.63629447A>G	GRCh38
NC_000001.10:g.64095118A>G , CM000663.1:g.64095118A>G	GRCh37
NC_000001.9:g.63867706A>G	NCBI36
NG_016966.1:g.41172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.269A>G MANE Select	ENSP00000360125.3:p.Gln90Arg
ENST00000650546.1:c.269A>G	ENSP00000497812.1:p.Gln90Arg
ENST00000371083.4:c.323A>G	ENSP00000360124.4:p.Gln108Arg
ENST00000371084.7:c.269A>G	ENSP00000360125.3:p.Gln90Arg
ENST00000540265.5:c.-323A>G	ENSP00000443449.1:n.-323A>G
NM_001172818.1:c.323A>G	NP_001166289.1:p.Gln108Arg
NM_001172819.1:c.-323A>G	NP_001166290.1:n.-323A>G
NM_002633.2:c.269A>G	NP_002624.2:p.Gln90Arg
NM_002633.3:c.269A>G MANE Select	NP_002624.2:p.Gln90Arg
NM_001172819.2:c.-323A>G	NP_001166290.1:n.-323A>G