Canonical Allele Identifier: CA393676593
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908897C>G , CM000677.2:g.98908897C>G GRCh38
NC_000015.9:g.99452126C>G , CM000677.1:g.99452126C>G GRCh37
NC_000015.8:g.97269649C>G NCBI36
NG_009492.1:g.264366C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1460C>G ENSP00000496919.1:p.Ser487Cys
ENST00000650285.1:c.1460C>G MANE Select ENSP00000497069.1:p.Ser487Cys
ENST00000268035.10:c.1460C>G ENSP00000268035.6:p.Ser487Cys
ENST00000558762.5:c.1460C>G ENSP00000453007.1:p.Ser487Cys
ENST00000558898.1:c.551C>G ENSP00000454115.1:p.Ser184Cys
ENST00000559582.1:n.367C>G
ENST00000559925.5:n.1460C>G
NM_000875.4:c.1460C>G NP_000866.1:p.Ser487Cys
NM_001291858.1:c.1460C>G NP_001278787.1:p.Ser487Cys
XM_011521513.1:c.1523C>G XP_011519815.1:p.Ser508Cys
XM_011521514.1:c.1523C>G XP_011519816.1:p.Ser508Cys
XM_011521515.1:c.1523C>G XP_011519817.1:p.Ser508Cys
XM_011521516.1:c.551C>G XP_011519818.1:p.Ser184Cys
XM_011521517.1:c.125C>G XP_011519819.1:p.Ser42Cys
XM_011521516.2:c.551C>G XP_011519818.1:p.Ser184Cys
XM_011521517.2:c.125C>G XP_011519819.1:p.Ser42Cys
XM_017022136.1:c.1535C>G XP_016877625.1:p.Ser512Cys
XM_017022137.1:c.1535C>G XP_016877626.1:p.Ser512Cys
XM_017022138.1:c.1535C>G XP_016877627.1:p.Ser512Cys
XM_017022139.1:c.1097C>G XP_016877628.1:p.Ser366Cys
XM_024449913.1:c.551C>G XP_024305681.1:p.Ser184Cys
NM_000875.5:c.1460C>G MANE Select NP_000866.1:p.Ser487Cys
NM_001291858.2:c.1460C>G NP_001278787.1:p.Ser487Cys