Canonical Allele Identifier: CA393678747
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98913048T>G , CM000677.2:g.98913048T>G GRCh38
NC_000015.9:g.99456277T>G , CM000677.1:g.99456277T>G GRCh37
NC_000015.8:g.97273800T>G NCBI36
NG_009492.1:g.268517T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000649865.1:c.1594T>G ENSP00000496919.1:p.Phe532Val
ENST00000650285.1:c.1594T>G MANE Select ENSP00000497069.1:p.Phe532Val
ENST00000268035.10:c.1594T>G ENSP00000268035.6:p.Phe532Val
ENST00000558762.5:c.1594T>G ENSP00000453007.1:p.Phe532Val
ENST00000559582.1:n.501T>G
ENST00000559925.5:n.1594T>G
NM_000875.4:c.1594T>G NP_000866.1:p.Phe532Val
NM_001291858.1:c.1594T>G NP_001278787.1:p.Phe532Val
XM_011521513.1:c.1657T>G XP_011519815.1:p.Phe553Val
XM_011521514.1:c.1657T>G XP_011519816.1:p.Phe553Val
XM_011521515.1:c.1657T>G XP_011519817.1:p.Phe553Val
XM_011521516.1:c.685T>G XP_011519818.1:p.Phe229Val
XM_011521517.1:c.259T>G XP_011519819.1:p.Phe87Val
XM_011521516.2:c.685T>G XP_011519818.1:p.Phe229Val
XM_011521517.2:c.259T>G XP_011519819.1:p.Phe87Val
XM_017022136.1:c.1669T>G XP_016877625.1:p.Phe557Val
XM_017022137.1:c.1669T>G XP_016877626.1:p.Phe557Val
XM_017022138.1:c.1669T>G XP_016877627.1:p.Phe557Val
XM_017022139.1:c.1231T>G XP_016877628.1:p.Phe411Val
XM_024449913.1:c.685T>G XP_024305681.1:p.Phe229Val
NM_000875.5:c.1594T>G MANE Select NP_000866.1:p.Phe532Val
NM_001291858.2:c.1594T>G NP_001278787.1:p.Phe532Val