Canonical Allele Identifier: CA393675722
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908798T>A , CM000677.2:g.98908798T>A GRCh38
NC_000015.9:g.99452027T>A , CM000677.1:g.99452027T>A GRCh37
NC_000015.8:g.97269550T>A NCBI36
NG_009492.1:g.264267T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1361T>A ENSP00000496919.1:p.Leu454Ter
ENST00000650285.1:c.1361T>A MANE Select ENSP00000497069.1:p.Leu454Ter
ENST00000268035.10:c.1361T>A ENSP00000268035.6:p.Leu454Ter
ENST00000558762.5:c.1361T>A ENSP00000453007.1:p.Leu454Ter
ENST00000558898.1:c.452T>A ENSP00000454115.1:p.Leu151Ter
ENST00000559582.1:n.268T>A
ENST00000559925.5:n.1361T>A
NM_000875.4:c.1361T>A NP_000866.1:p.Leu454Ter
NM_001291858.1:c.1361T>A NP_001278787.1:p.Leu454Ter
XM_011521513.1:c.1424T>A XP_011519815.1:p.Leu475Ter
XM_011521514.1:c.1424T>A XP_011519816.1:p.Leu475Ter
XM_011521515.1:c.1424T>A XP_011519817.1:p.Leu475Ter
XM_011521516.1:c.452T>A XP_011519818.1:p.Leu151Ter
XM_011521517.1:c.26T>A XP_011519819.1:p.Leu9Ter
XM_011521516.2:c.452T>A XP_011519818.1:p.Leu151Ter
XM_011521517.2:c.26T>A XP_011519819.1:p.Leu9Ter
XM_017022136.1:c.1436T>A XP_016877625.1:p.Leu479Ter
XM_017022137.1:c.1436T>A XP_016877626.1:p.Leu479Ter
XM_017022138.1:c.1436T>A XP_016877627.1:p.Leu479Ter
XM_017022139.1:c.998T>A XP_016877628.1:p.Leu333Ter
XM_024449913.1:c.452T>A XP_024305681.1:p.Leu151Ter
NM_000875.5:c.1361T>A MANE Select NP_000866.1:p.Leu454Ter
NM_001291858.2:c.1361T>A NP_001278787.1:p.Leu454Ter