Canonical Allele Identifier: CA889317
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs763399590
ExAC: 1:64059115 G / A
gnomAD v2: 1-64059115-G-A
gnomAD v3: 1-63593444-G-A
gnomAD v4: 1-63593444-G-A
MyVariant Identifiers: chr1:g.64059115G>A (hg19) chr1:g.63593444G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593444G>A , CM000663.2:g.63593444G>A GRCh38
NC_000001.10:g.64059115G>A , CM000663.1:g.64059115G>A GRCh37
NC_000001.9:g.63831703G>A NCBI36
NG_016966.1:g.5169G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.-45G>A (PGM1) MANE Select ENSP00000360125.3:n.-45G>A
ENST00000650546.1:c.-45G>A (PGM1) ENSP00000497812.1:n.-45G>A
ENST00000371084.7:c.-45G>A (PGM1) ENSP00000360125.3:n.-45G>A
ENST00000478138.1:n.197+81C>T (ITGB3BP)
NM_002633.2:c.-45G>A (PGM1) NP_002624.2:n.-45G>A
NM_002633.3:c.-45G>A (PGM1) MANE Select NP_002624.2:n.-45G>A
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