Canonical Allele Identifier: CA418268533
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.64059165G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593494G>A , CM000663.2:g.63593494G>A GRCh38
NC_000001.10:g.64059165G>A , CM000663.1:g.64059165G>A GRCh37
NC_000001.9:g.63831753G>A NCBI36
NG_016966.1:g.5219G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.6G>A (PGM1) MANE Select ENSP00000360125.3:p.Val2=
ENST00000650546.1:c.6G>A (PGM1) ENSP00000497812.1:p.Val2=
ENST00000371084.7:c.6G>A (PGM1) ENSP00000360125.3:p.Val2=
ENST00000478138.1:n.197+31C>T (ITGB3BP)
NM_002633.2:c.6G>A (PGM1) NP_002624.2:p.Val2=
NM_002633.3:c.6G>A (PGM1) MANE Select NP_002624.2:p.Val2=