Canonical Allele Identifier: CA418207797
Gene: PGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.64095164A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629493A>G , CM000663.2:g.63629493A>G GRCh38
NC_000001.10:g.64095164A>G , CM000663.1:g.64095164A>G GRCh37
NC_000001.9:g.63867752A>G NCBI36
NG_016966.1:g.41218A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.315A>G MANE Select ENSP00000360125.3:p.Lys105=
ENST00000650546.1:c.315A>G ENSP00000497812.1:p.Lys105=
ENST00000371083.4:c.369A>G ENSP00000360124.4:p.Lys123=
ENST00000371084.7:c.315A>G ENSP00000360125.3:p.Lys105=
ENST00000540265.5:c.-277A>G ENSP00000443449.1:n.-277A>G
NM_001172818.1:c.369A>G NP_001166289.1:p.Lys123=
NM_001172819.1:c.-277A>G NP_001166290.1:n.-277A>G
NM_002633.2:c.315A>G NP_002624.2:p.Lys105=
NM_002633.3:c.315A>G MANE Select NP_002624.2:p.Lys105=
NM_001172819.2:c.-277A>G NP_001166290.1:n.-277A>G