Canonical Allele Identifier: CA418197658
Gene: PGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.64114306C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63648635C>G , CM000663.2:g.63648635C>G GRCh38
NC_000001.10:g.64114306C>G , CM000663.1:g.64114306C>G GRCh37
NC_000001.9:g.63886894C>G NCBI36
NG_016966.1:g.60360C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371084.8:c.1263C>G MANE Select ENSP00000360125.3:p.Gly421=
ENST00000650546.1:c.1263C>G ENSP00000497812.1:p.Gly421=
ENST00000371083.4:c.1317C>G ENSP00000360124.4:p.Gly439=
ENST00000371084.7:c.1263C>G ENSP00000360125.3:p.Gly421=
ENST00000540265.5:c.672C>G ENSP00000443449.1:p.Gly224=
NM_001172818.1:c.1317C>G NP_001166289.1:p.Gly439=
NM_001172819.1:c.672C>G NP_001166290.1:p.Gly224=
NM_002633.2:c.1263C>G NP_002624.2:p.Gly421=
NM_002633.3:c.1263C>G MANE Select NP_002624.2:p.Gly421=
NM_001172819.2:c.672C>G NP_001166290.1:p.Gly224=