Canonical Allele Identifier: CA393658778
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98935332T>C , CM000677.2:g.98935332T>C GRCh38
NC_000015.9:g.99478561T>C , CM000677.1:g.99478561T>C GRCh37
NC_000015.8:g.97296084T>C NCBI36
NG_009492.1:g.290801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.3200T>C ENSP00000496919.1:p.Val1067Ala
ENST00000650285.1:c.3203T>C MANE Select ENSP00000497069.1:p.Val1068Ala
ENST00000268035.10:c.3203T>C ENSP00000268035.6:p.Val1068Ala
ENST00000558762.5:c.3200T>C ENSP00000453007.1:p.Val1067Ala
ENST00000560972.1:c.276T>C ENSP00000453180.1:p.Cys92=
NM_000875.4:c.3203T>C NP_000866.1:p.Val1068Ala
NM_001291858.1:c.3200T>C NP_001278787.1:p.Val1067Ala
XM_011521513.1:c.3266T>C XP_011519815.1:p.Val1089Ala
XM_011521514.1:c.3266T>C XP_011519816.1:p.Val1089Ala
XM_011521515.1:c.3263T>C XP_011519817.1:p.Val1088Ala
XM_011521516.1:c.2294T>C XP_011519818.1:p.Val765Ala
XM_011521517.1:c.1868T>C XP_011519819.1:p.Val623Ala
XM_011521516.2:c.2294T>C XP_011519818.1:p.Val765Ala
XM_011521517.2:c.1868T>C XP_011519819.1:p.Val623Ala
XM_017022136.1:c.3278T>C XP_016877625.1:p.Val1093Ala
XM_017022137.1:c.3278T>C XP_016877626.1:p.Val1093Ala
XM_017022138.1:c.3275T>C XP_016877627.1:p.Val1092Ala
XM_017022139.1:c.2840T>C XP_016877628.1:p.Val947Ala
XM_024449913.1:c.2294T>C XP_024305681.1:p.Val765Ala
NM_000875.5:c.3203T>C MANE Select NP_000866.1:p.Val1068Ala
NM_001291858.2:c.3200T>C NP_001278787.1:p.Val1067Ala