Canonical Allele Identifier: CA393676558
Gene: IGF1R HGNC NCBI

Linked Data

dbSNP Id: rs2151670412

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908893G>C , CM000677.2:g.98908893G>C GRCh38
NC_000015.9:g.99452122G>C , CM000677.1:g.99452122G>C GRCh37
NC_000015.8:g.97269645G>C NCBI36
NG_009492.1:g.264362G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1456G>C ENSP00000496919.1:p.Ala486Pro
ENST00000650285.1:c.1456G>C MANE Select ENSP00000497069.1:p.Ala486Pro
ENST00000268035.10:c.1456G>C ENSP00000268035.6:p.Ala486Pro
ENST00000558762.5:c.1456G>C ENSP00000453007.1:p.Ala486Pro
ENST00000558898.1:c.547G>C ENSP00000454115.1:p.Ala183Pro
ENST00000559582.1:n.363G>C
ENST00000559925.5:n.1456G>C
NM_000875.4:c.1456G>C NP_000866.1:p.Ala486Pro
NM_001291858.1:c.1456G>C NP_001278787.1:p.Ala486Pro
XM_011521513.1:c.1519G>C XP_011519815.1:p.Ala507Pro
XM_011521514.1:c.1519G>C XP_011519816.1:p.Ala507Pro
XM_011521515.1:c.1519G>C XP_011519817.1:p.Ala507Pro
XM_011521516.1:c.547G>C XP_011519818.1:p.Ala183Pro
XM_011521517.1:c.121G>C XP_011519819.1:p.Ala41Pro
XM_011521516.2:c.547G>C XP_011519818.1:p.Ala183Pro
XM_011521517.2:c.121G>C XP_011519819.1:p.Ala41Pro
XM_017022136.1:c.1531G>C XP_016877625.1:p.Ala511Pro
XM_017022137.1:c.1531G>C XP_016877626.1:p.Ala511Pro
XM_017022138.1:c.1531G>C XP_016877627.1:p.Ala511Pro
XM_017022139.1:c.1093G>C XP_016877628.1:p.Ala365Pro
XM_024449913.1:c.547G>C XP_024305681.1:p.Ala183Pro
NM_000875.5:c.1456G>C MANE Select NP_000866.1:p.Ala486Pro
NM_001291858.2:c.1456G>C NP_001278787.1:p.Ala486Pro