Canonical Allele Identifier: CA393674594
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908693C>A , CM000677.2:g.98908693C>A GRCh38
NC_000015.9:g.99451922C>A , CM000677.1:g.99451922C>A GRCh37
NC_000015.8:g.97269445C>A NCBI36
NG_009492.1:g.264162C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1256C>A ENSP00000496919.1:p.Ser419Tyr
ENST00000650285.1:c.1256C>A MANE Select ENSP00000497069.1:p.Ser419Tyr
ENST00000268035.10:c.1256C>A ENSP00000268035.6:p.Ser419Tyr
ENST00000558762.5:c.1256C>A ENSP00000453007.1:p.Ser419Tyr
ENST00000558898.1:c.347C>A ENSP00000454115.1:p.Ser116Tyr
ENST00000559582.1:n.163C>A
ENST00000559925.5:n.1256C>A
NM_000875.4:c.1256C>A NP_000866.1:p.Ser419Tyr
NM_001291858.1:c.1256C>A NP_001278787.1:p.Ser419Tyr
XM_011521513.1:c.1319C>A XP_011519815.1:p.Ser440Tyr
XM_011521514.1:c.1319C>A XP_011519816.1:p.Ser440Tyr
XM_011521515.1:c.1319C>A XP_011519817.1:p.Ser440Tyr
XM_011521516.1:c.347C>A XP_011519818.1:p.Ser116Tyr
XM_011521517.1:c.-80C>A XP_011519819.1:n.-80C>A
XM_011521516.2:c.347C>A XP_011519818.1:p.Ser116Tyr
XM_011521517.2:c.-80C>A XP_011519819.1:n.-80C>A
XM_017022136.1:c.1331C>A XP_016877625.1:p.Ser444Tyr
XM_017022137.1:c.1331C>A XP_016877626.1:p.Ser444Tyr
XM_017022138.1:c.1331C>A XP_016877627.1:p.Ser444Tyr
XM_017022139.1:c.893C>A XP_016877628.1:p.Ser298Tyr
XM_024449913.1:c.347C>A XP_024305681.1:p.Ser116Tyr
NM_000875.5:c.1256C>A MANE Select NP_000866.1:p.Ser419Tyr
NM_001291858.2:c.1256C>A NP_001278787.1:p.Ser419Tyr