Canonical Allele Identifier: CA393675714
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908797T>G , CM000677.2:g.98908797T>G GRCh38
NC_000015.9:g.99452026T>G , CM000677.1:g.99452026T>G GRCh37
NC_000015.8:g.97269549T>G NCBI36
NG_009492.1:g.264266T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1360T>G ENSP00000496919.1:p.Leu454Val
ENST00000650285.1:c.1360T>G MANE Select ENSP00000497069.1:p.Leu454Val
ENST00000268035.10:c.1360T>G ENSP00000268035.6:p.Leu454Val
ENST00000558762.5:c.1360T>G ENSP00000453007.1:p.Leu454Val
ENST00000558898.1:c.451T>G ENSP00000454115.1:p.Leu151Val
ENST00000559582.1:n.267T>G
ENST00000559925.5:n.1360T>G
NM_000875.4:c.1360T>G NP_000866.1:p.Leu454Val
NM_001291858.1:c.1360T>G NP_001278787.1:p.Leu454Val
XM_011521513.1:c.1423T>G XP_011519815.1:p.Leu475Val
XM_011521514.1:c.1423T>G XP_011519816.1:p.Leu475Val
XM_011521515.1:c.1423T>G XP_011519817.1:p.Leu475Val
XM_011521516.1:c.451T>G XP_011519818.1:p.Leu151Val
XM_011521517.1:c.25T>G XP_011519819.1:p.Leu9Val
XM_011521516.2:c.451T>G XP_011519818.1:p.Leu151Val
XM_011521517.2:c.25T>G XP_011519819.1:p.Leu9Val
XM_017022136.1:c.1435T>G XP_016877625.1:p.Leu479Val
XM_017022137.1:c.1435T>G XP_016877626.1:p.Leu479Val
XM_017022138.1:c.1435T>G XP_016877627.1:p.Leu479Val
XM_017022139.1:c.997T>G XP_016877628.1:p.Leu333Val
XM_024449913.1:c.451T>G XP_024305681.1:p.Leu151Val
NM_000875.5:c.1360T>G MANE Select NP_000866.1:p.Leu454Val
NM_001291858.2:c.1360T>G NP_001278787.1:p.Leu454Val