Canonical Allele Identifier: CA418197582

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64114201C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648530C>A , CM000663.2:g.63648530C>A	GRCh38
NC_000001.10:g.64114201C>A , CM000663.1:g.64114201C>A	GRCh37
NC_000001.9:g.63886789C>A	NCBI36
NG_016966.1:g.60255C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1158C>A MANE Select	ENSP00000360125.3:p.Ile386=
ENST00000650546.1:c.1158C>A	ENSP00000497812.1:p.Ile386=
ENST00000371083.4:c.1212C>A	ENSP00000360124.4:p.Ile404=
ENST00000371084.7:c.1158C>A	ENSP00000360125.3:p.Ile386=
ENST00000540265.5:c.567C>A	ENSP00000443449.1:p.Ile189=
NM_001172818.1:c.1212C>A	NP_001166289.1:p.Ile404=
NM_001172819.1:c.567C>A	NP_001166290.1:p.Ile189=
NM_002633.2:c.1158C>A	NP_002624.2:p.Ile386=
NM_002633.3:c.1158C>A MANE Select	NP_002624.2:p.Ile386=
NM_001172819.2:c.567C>A	NP_001166290.1:p.Ile189=