Canonical Allele Identifier: CA889355
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

ClinVar Variation Id: 382980
ClinVar RCV Id: RCV002525355
dbSNP Id: rs373394538
ExAC: 1:64059258 C / T
gnomAD v2: 1-64059258-C-T
gnomAD v3: 1-63593587-C-T
gnomAD v4: 1-63593587-C-T
MyVariant Identifiers: chr1:g.64059258C>T (hg19) chr1:g.63593587C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593587C>T , CM000663.2:g.63593587C>T GRCh38
NC_000001.10:g.64059258C>T , CM000663.1:g.64059258C>T GRCh37
NC_000001.9:g.63831846C>T NCBI36
NG_016966.1:g.5312C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371084.8:c.99C>T (PGM1) MANE Select ENSP00000360125.3:p.Ala33=
ENST00000650546.1:c.99C>T (PGM1) ENSP00000497812.1:p.Ala33=
ENST00000371084.7:c.99C>T (PGM1) ENSP00000360125.3:p.Ala33=
ENST00000478138.1:n.135G>A (ITGB3BP)
NM_002633.2:c.99C>T (PGM1) NP_002624.2:p.Ala33=
NM_002633.3:c.99C>T (PGM1) MANE Select NP_002624.2:p.Ala33=
Search 100 bp 5'
Search 100 bp 3'