Canonical Allele Identifier: CA393674957
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908727A>C , CM000677.2:g.98908727A>C GRCh38
NC_000015.9:g.99451956A>C , CM000677.1:g.99451956A>C GRCh37
NC_000015.8:g.97269479A>C NCBI36
NG_009492.1:g.264196A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1290A>C ENSP00000496919.1:p.Gln430His
ENST00000650285.1:c.1290A>C MANE Select ENSP00000497069.1:p.Gln430His
ENST00000268035.10:c.1290A>C ENSP00000268035.6:p.Gln430His
ENST00000558762.5:c.1290A>C ENSP00000453007.1:p.Gln430His
ENST00000558898.1:c.381A>C ENSP00000454115.1:p.Gln127His
ENST00000559582.1:n.197A>C
ENST00000559925.5:n.1290A>C
NM_000875.4:c.1290A>C NP_000866.1:p.Gln430His
NM_001291858.1:c.1290A>C NP_001278787.1:p.Gln430His
XM_011521513.1:c.1353A>C XP_011519815.1:p.Gln451His
XM_011521514.1:c.1353A>C XP_011519816.1:p.Gln451His
XM_011521515.1:c.1353A>C XP_011519817.1:p.Gln451His
XM_011521516.1:c.381A>C XP_011519818.1:p.Gln127His
XM_011521517.1:c.-46A>C XP_011519819.1:n.-46A>C
XM_011521516.2:c.381A>C XP_011519818.1:p.Gln127His
XM_011521517.2:c.-46A>C XP_011519819.1:n.-46A>C
XM_017022136.1:c.1365A>C XP_016877625.1:p.Gln455His
XM_017022137.1:c.1365A>C XP_016877626.1:p.Gln455His
XM_017022138.1:c.1365A>C XP_016877627.1:p.Gln455His
XM_017022139.1:c.927A>C XP_016877628.1:p.Gln309His
XM_024449913.1:c.381A>C XP_024305681.1:p.Gln127His
NM_000875.5:c.1290A>C MANE Select NP_000866.1:p.Gln430His
NM_001291858.2:c.1290A>C NP_001278787.1:p.Gln430His