Canonical Allele Identifier: CA393697249
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98707894A>C , CM000677.2:g.98707894A>C GRCh38
NC_000015.9:g.99251123A>C , CM000677.1:g.99251123A>C GRCh37
NC_000015.8:g.97068646A>C NCBI36
NG_009492.1:g.63363A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.427A>C ENSP00000496919.1:p.Ile143Leu
ENST00000650285.1:c.427A>C MANE Select ENSP00000497069.1:p.Ile143Leu
ENST00000268035.10:c.427A>C ENSP00000268035.6:p.Ile143Leu
ENST00000558355.1:c.64A>C ENSP00000453630.1:p.Ile22Leu
ENST00000558762.5:c.427A>C ENSP00000453007.1:p.Ile143Leu
ENST00000559925.5:n.427A>C
NM_000875.4:c.427A>C NP_000866.1:p.Ile143Leu
NM_001291858.1:c.427A>C NP_001278787.1:p.Ile143Leu
XM_011521513.1:c.427A>C XP_011519815.1:p.Ile143Leu
XM_011521514.1:c.427A>C XP_011519816.1:p.Ile143Leu
XM_011521515.1:c.427A>C XP_011519817.1:p.Ile143Leu
XM_017022136.1:c.502A>C XP_016877625.1:p.Ile168Leu
XM_017022137.1:c.502A>C XP_016877626.1:p.Ile168Leu
XM_017022138.1:c.502A>C XP_016877627.1:p.Ile168Leu
XM_017022139.1:c.64A>C XP_016877628.1:p.Ile22Leu
NM_000875.5:c.427A>C MANE Select NP_000866.1:p.Ile143Leu
NM_001291858.2:c.427A>C NP_001278787.1:p.Ile143Leu