Canonical Allele Identifier: CA523563066
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

dbSNP Id: rs1186689453
gnomAD v2: 1-64059117-C-G
MyVariant Identifiers: chr1:g.64059117C>G (hg19) chr1:g.63593446C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593446C>G , CM000663.2:g.63593446C>G GRCh38
NC_000001.10:g.64059117C>G , CM000663.1:g.64059117C>G GRCh37
NC_000001.9:g.63831705C>G NCBI36
NG_016966.1:g.5171C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.-43C>G (PGM1) MANE Select ENSP00000360125.3:n.-43C>G
ENST00000650546.1:c.-43C>G (PGM1) ENSP00000497812.1:n.-43C>G
ENST00000371084.7:c.-43C>G (PGM1) ENSP00000360125.3:n.-43C>G
ENST00000478138.1:n.197+79G>C (ITGB3BP)
NM_002633.2:c.-43C>G (PGM1) NP_002624.2:n.-43C>G
NM_002633.3:c.-43C>G (PGM1) MANE Select NP_002624.2:n.-43C>G
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