Canonical Allele Identifier: CA393674722
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908704C>T , CM000677.2:g.98908704C>T GRCh38
NC_000015.9:g.99451933C>T , CM000677.1:g.99451933C>T GRCh37
NC_000015.8:g.97269456C>T NCBI36
NG_009492.1:g.264173C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1267C>T ENSP00000496919.1:p.Leu423Phe
ENST00000650285.1:c.1267C>T MANE Select ENSP00000497069.1:p.Leu423Phe
ENST00000268035.10:c.1267C>T ENSP00000268035.6:p.Leu423Phe
ENST00000558762.5:c.1267C>T ENSP00000453007.1:p.Leu423Phe
ENST00000558898.1:c.358C>T ENSP00000454115.1:p.Leu120Phe
ENST00000559582.1:n.174C>T
ENST00000559925.5:n.1267C>T
NM_000875.4:c.1267C>T NP_000866.1:p.Leu423Phe
NM_001291858.1:c.1267C>T NP_001278787.1:p.Leu423Phe
XM_011521513.1:c.1330C>T XP_011519815.1:p.Leu444Phe
XM_011521514.1:c.1330C>T XP_011519816.1:p.Leu444Phe
XM_011521515.1:c.1330C>T XP_011519817.1:p.Leu444Phe
XM_011521516.1:c.358C>T XP_011519818.1:p.Leu120Phe
XM_011521517.1:c.-69C>T XP_011519819.1:n.-69C>T
XM_011521516.2:c.358C>T XP_011519818.1:p.Leu120Phe
XM_011521517.2:c.-69C>T XP_011519819.1:n.-69C>T
XM_017022136.1:c.1342C>T XP_016877625.1:p.Leu448Phe
XM_017022137.1:c.1342C>T XP_016877626.1:p.Leu448Phe
XM_017022138.1:c.1342C>T XP_016877627.1:p.Leu448Phe
XM_017022139.1:c.904C>T XP_016877628.1:p.Leu302Phe
XM_024449913.1:c.358C>T XP_024305681.1:p.Leu120Phe
NM_000875.5:c.1267C>T MANE Select NP_000866.1:p.Leu423Phe
NM_001291858.2:c.1267C>T NP_001278787.1:p.Leu423Phe