Canonical Allele Identifier: CA393676048
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908831T>C , CM000677.2:g.98908831T>C GRCh38
NC_000015.9:g.99452060T>C , CM000677.1:g.99452060T>C GRCh37
NC_000015.8:g.97269583T>C NCBI36
NG_009492.1:g.264300T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1394T>C ENSP00000496919.1:p.Val465Ala
ENST00000650285.1:c.1394T>C MANE Select ENSP00000497069.1:p.Val465Ala
ENST00000268035.10:c.1394T>C ENSP00000268035.6:p.Val465Ala
ENST00000558762.5:c.1394T>C ENSP00000453007.1:p.Val465Ala
ENST00000558898.1:c.485T>C ENSP00000454115.1:p.Val162Ala
ENST00000559582.1:n.301T>C
ENST00000559925.5:n.1394T>C
NM_000875.4:c.1394T>C NP_000866.1:p.Val465Ala
NM_001291858.1:c.1394T>C NP_001278787.1:p.Val465Ala
XM_011521513.1:c.1457T>C XP_011519815.1:p.Val486Ala
XM_011521514.1:c.1457T>C XP_011519816.1:p.Val486Ala
XM_011521515.1:c.1457T>C XP_011519817.1:p.Val486Ala
XM_011521516.1:c.485T>C XP_011519818.1:p.Val162Ala
XM_011521517.1:c.59T>C XP_011519819.1:p.Val20Ala
XM_011521516.2:c.485T>C XP_011519818.1:p.Val162Ala
XM_011521517.2:c.59T>C XP_011519819.1:p.Val20Ala
XM_017022136.1:c.1469T>C XP_016877625.1:p.Val490Ala
XM_017022137.1:c.1469T>C XP_016877626.1:p.Val490Ala
XM_017022138.1:c.1469T>C XP_016877627.1:p.Val490Ala
XM_017022139.1:c.1031T>C XP_016877628.1:p.Val344Ala
XM_024449913.1:c.485T>C XP_024305681.1:p.Val162Ala
NM_000875.5:c.1394T>C MANE Select NP_000866.1:p.Val465Ala
NM_001291858.2:c.1394T>C NP_001278787.1:p.Val465Ala