Canonical Allele Identifier: CA889353
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs545457280
ExAC: 1:64059245 T / A
gnomAD v2: 1-64059245-T-A
gnomAD v3: 1-63593574-T-A
gnomAD v4: 1-63593574-T-A
MyVariant Identifiers: chr1:g.64059245T>A (hg19) chr1:g.64059245_64059253delinsACCAGAGCA (hg19) chr1:g.63593574T>A (hg38) chr1:g.63593574_63593582delinsACCAGAGCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593574T>A , CM000663.2:g.63593574T>A GRCh38
NC_000001.10:g.64059245T>A , CM000663.1:g.64059245T>A GRCh37
NC_000001.9:g.63831833T>A NCBI36
NG_016966.1:g.5299T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.86T>A (PGM1) MANE Select ENSP00000360125.3:p.Phe29Tyr
ENST00000650546.1:c.86T>A (PGM1) ENSP00000497812.1:p.Phe29Tyr
ENST00000371084.7:c.86T>A (PGM1) ENSP00000360125.3:p.Phe29Tyr
ENST00000478138.1:n.148A>T (ITGB3BP)
NM_002633.2:c.86T>A (PGM1) NP_002624.2:p.Phe29Tyr
NM_002633.3:c.86T>A (PGM1) MANE Select NP_002624.2:p.Phe29Tyr
Search 100 bp 5'
Search 100 bp 3'