Canonical Allele Identifier: CA418197583

Gene: PGM1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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