Canonical Allele Identifier: CA393675112
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908740G>T , CM000677.2:g.98908740G>T GRCh38
NC_000015.9:g.99451969G>T , CM000677.1:g.99451969G>T GRCh37
NC_000015.8:g.97269492G>T NCBI36
NG_009492.1:g.264209G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1303G>T ENSP00000496919.1:p.Asp435Tyr
ENST00000650285.1:c.1303G>T MANE Select ENSP00000497069.1:p.Asp435Tyr
ENST00000268035.10:c.1303G>T ENSP00000268035.6:p.Asp435Tyr
ENST00000558762.5:c.1303G>T ENSP00000453007.1:p.Asp435Tyr
ENST00000558898.1:c.394G>T ENSP00000454115.1:p.Asp132Tyr
ENST00000559582.1:n.210G>T
ENST00000559925.5:n.1303G>T
NM_000875.4:c.1303G>T NP_000866.1:p.Asp435Tyr
NM_001291858.1:c.1303G>T NP_001278787.1:p.Asp435Tyr
XM_011521513.1:c.1366G>T XP_011519815.1:p.Asp456Tyr
XM_011521514.1:c.1366G>T XP_011519816.1:p.Asp456Tyr
XM_011521515.1:c.1366G>T XP_011519817.1:p.Asp456Tyr
XM_011521516.1:c.394G>T XP_011519818.1:p.Asp132Tyr
XM_011521517.1:c.-33G>T XP_011519819.1:n.-33G>T
XM_011521516.2:c.394G>T XP_011519818.1:p.Asp132Tyr
XM_011521517.2:c.-33G>T XP_011519819.1:n.-33G>T
XM_017022136.1:c.1378G>T XP_016877625.1:p.Asp460Tyr
XM_017022137.1:c.1378G>T XP_016877626.1:p.Asp460Tyr
XM_017022138.1:c.1378G>T XP_016877627.1:p.Asp460Tyr
XM_017022139.1:c.940G>T XP_016877628.1:p.Asp314Tyr
XM_024449913.1:c.394G>T XP_024305681.1:p.Asp132Tyr
NM_000875.5:c.1303G>T MANE Select NP_000866.1:p.Asp435Tyr
NM_001291858.2:c.1303G>T NP_001278787.1:p.Asp435Tyr