Canonical Allele Identifier: CA889329
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs756875667
ExAC: 1:64059143 G / C
gnomAD v2: 1-64059143-G-C
gnomAD v4: 1-63593472-G-C
MyVariant Identifiers: chr1:g.64059143G>C (hg19) chr1:g.63593472G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593472G>C , CM000663.2:g.63593472G>C GRCh38
NC_000001.10:g.64059143G>C , CM000663.1:g.64059143G>C GRCh37
NC_000001.9:g.63831731G>C NCBI36
NG_016966.1:g.5197G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.-17G>C (PGM1) MANE Select ENSP00000360125.3:n.-17G>C
ENST00000650546.1:c.-17G>C (PGM1) ENSP00000497812.1:n.-17G>C
ENST00000371084.7:c.-17G>C (PGM1) ENSP00000360125.3:n.-17G>C
ENST00000478138.1:n.197+53C>G (ITGB3BP)
NM_002633.2:c.-17G>C (PGM1) NP_002624.2:n.-17G>C
NM_002633.3:c.-17G>C (PGM1) MANE Select NP_002624.2:n.-17G>C
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