Canonical Allele Identifier: CA393658807
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98935338C>T , CM000677.2:g.98935338C>T GRCh38
NC_000015.9:g.99478567C>T , CM000677.1:g.99478567C>T GRCh37
NC_000015.8:g.97296090C>T NCBI36
NG_009492.1:g.290807C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.3206C>T ENSP00000496919.1:p.Ser1069Phe
ENST00000650285.1:c.3209C>T MANE Select ENSP00000497069.1:p.Ser1070Phe
ENST00000268035.10:c.3209C>T ENSP00000268035.6:p.Ser1070Phe
ENST00000558762.5:c.3206C>T ENSP00000453007.1:p.Ser1069Phe
ENST00000560972.1:c.282C>T ENSP00000453180.1:p.Val94=
NM_000875.4:c.3209C>T NP_000866.1:p.Ser1070Phe
NM_001291858.1:c.3206C>T NP_001278787.1:p.Ser1069Phe
XM_011521513.1:c.3272C>T XP_011519815.1:p.Ser1091Phe
XM_011521514.1:c.3272C>T XP_011519816.1:p.Ser1091Phe
XM_011521515.1:c.3269C>T XP_011519817.1:p.Ser1090Phe
XM_011521516.1:c.2300C>T XP_011519818.1:p.Ser767Phe
XM_011521517.1:c.1874C>T XP_011519819.1:p.Ser625Phe
XM_011521516.2:c.2300C>T XP_011519818.1:p.Ser767Phe
XM_011521517.2:c.1874C>T XP_011519819.1:p.Ser625Phe
XM_017022136.1:c.3284C>T XP_016877625.1:p.Ser1095Phe
XM_017022137.1:c.3284C>T XP_016877626.1:p.Ser1095Phe
XM_017022138.1:c.3281C>T XP_016877627.1:p.Ser1094Phe
XM_017022139.1:c.2846C>T XP_016877628.1:p.Ser949Phe
XM_024449913.1:c.2300C>T XP_024305681.1:p.Ser767Phe
NM_000875.5:c.3209C>T MANE Select NP_000866.1:p.Ser1070Phe
NM_001291858.2:c.3206C>T NP_001278787.1:p.Ser1069Phe