Canonical Allele Identifier: CA393674608
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908695T>C , CM000677.2:g.98908695T>C GRCh38
NC_000015.9:g.99451924T>C , CM000677.1:g.99451924T>C GRCh37
NC_000015.8:g.97269447T>C NCBI36
NG_009492.1:g.264164T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1258T>C ENSP00000496919.1:p.Phe420Leu
ENST00000650285.1:c.1258T>C MANE Select ENSP00000497069.1:p.Phe420Leu
ENST00000268035.10:c.1258T>C ENSP00000268035.6:p.Phe420Leu
ENST00000558762.5:c.1258T>C ENSP00000453007.1:p.Phe420Leu
ENST00000558898.1:c.349T>C ENSP00000454115.1:p.Phe117Leu
ENST00000559582.1:n.165T>C
ENST00000559925.5:n.1258T>C
NM_000875.4:c.1258T>C NP_000866.1:p.Phe420Leu
NM_001291858.1:c.1258T>C NP_001278787.1:p.Phe420Leu
XM_011521513.1:c.1321T>C XP_011519815.1:p.Phe441Leu
XM_011521514.1:c.1321T>C XP_011519816.1:p.Phe441Leu
XM_011521515.1:c.1321T>C XP_011519817.1:p.Phe441Leu
XM_011521516.1:c.349T>C XP_011519818.1:p.Phe117Leu
XM_011521517.1:c.-78T>C XP_011519819.1:n.-78T>C
XM_011521516.2:c.349T>C XP_011519818.1:p.Phe117Leu
XM_011521517.2:c.-78T>C XP_011519819.1:n.-78T>C
XM_017022136.1:c.1333T>C XP_016877625.1:p.Phe445Leu
XM_017022137.1:c.1333T>C XP_016877626.1:p.Phe445Leu
XM_017022138.1:c.1333T>C XP_016877627.1:p.Phe445Leu
XM_017022139.1:c.895T>C XP_016877628.1:p.Phe299Leu
XM_024449913.1:c.349T>C XP_024305681.1:p.Phe117Leu
NM_000875.5:c.1258T>C MANE Select NP_000866.1:p.Phe420Leu
NM_001291858.2:c.1258T>C NP_001278787.1:p.Phe420Leu