Canonical Allele Identifier: CA340638753
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

ClinVar Variation Id: 1932812
ClinVar RCV Id: RCV002649523
dbSNP Id: rs1647925458
gnomAD v4: 1-63593493-T-G
MyVariant Identifiers: chr1:g.64059164T>G (hg19) chr1:g.63593493T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593493T>G , CM000663.2:g.63593493T>G GRCh38
NC_000001.10:g.64059164T>G , CM000663.1:g.64059164T>G GRCh37
NC_000001.9:g.63831752T>G NCBI36
NG_016966.1:g.5218T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.5T>G (PGM1) MANE Select ENSP00000360125.3:p.Val2Gly
ENST00000650546.1:c.5T>G (PGM1) ENSP00000497812.1:p.Val2Gly
ENST00000371084.7:c.5T>G (PGM1) ENSP00000360125.3:p.Val2Gly
ENST00000478138.1:n.197+32A>C (ITGB3BP)
NM_002633.2:c.5T>G (PGM1) NP_002624.2:p.Val2Gly
NM_002633.3:c.5T>G (PGM1) MANE Select NP_002624.2:p.Val2Gly
Search 100 bp 5'
Search 100 bp 3'