Canonical Allele Identifier: CA393675093
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908739G>T , CM000677.2:g.98908739G>T GRCh38
NC_000015.9:g.99451968G>T , CM000677.1:g.99451968G>T GRCh37
NC_000015.8:g.97269491G>T NCBI36
NG_009492.1:g.264208G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1302G>T ENSP00000496919.1:p.Trp434Cys
ENST00000650285.1:c.1302G>T MANE Select ENSP00000497069.1:p.Trp434Cys
ENST00000268035.10:c.1302G>T ENSP00000268035.6:p.Trp434Cys
ENST00000558762.5:c.1302G>T ENSP00000453007.1:p.Trp434Cys
ENST00000558898.1:c.393G>T ENSP00000454115.1:p.Trp131Cys
ENST00000559582.1:n.209G>T
ENST00000559925.5:n.1302G>T
NM_000875.4:c.1302G>T NP_000866.1:p.Trp434Cys
NM_001291858.1:c.1302G>T NP_001278787.1:p.Trp434Cys
XM_011521513.1:c.1365G>T XP_011519815.1:p.Trp455Cys
XM_011521514.1:c.1365G>T XP_011519816.1:p.Trp455Cys
XM_011521515.1:c.1365G>T XP_011519817.1:p.Trp455Cys
XM_011521516.1:c.393G>T XP_011519818.1:p.Trp131Cys
XM_011521517.1:c.-34G>T XP_011519819.1:n.-34G>T
XM_011521516.2:c.393G>T XP_011519818.1:p.Trp131Cys
XM_011521517.2:c.-34G>T XP_011519819.1:n.-34G>T
XM_017022136.1:c.1377G>T XP_016877625.1:p.Trp459Cys
XM_017022137.1:c.1377G>T XP_016877626.1:p.Trp459Cys
XM_017022138.1:c.1377G>T XP_016877627.1:p.Trp459Cys
XM_017022139.1:c.939G>T XP_016877628.1:p.Trp313Cys
XM_024449913.1:c.393G>T XP_024305681.1:p.Trp131Cys
NM_000875.5:c.1302G>T MANE Select NP_000866.1:p.Trp434Cys
NM_001291858.2:c.1302G>T NP_001278787.1:p.Trp434Cys