Canonical Allele Identifier: CA7752076
Gene: IGF1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1307706
ClinVar RCV Id: RCV001772561
dbSNP Id: rs771228557

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908809G>A , CM000677.2:g.98908809G>A GRCh38
NC_000015.9:g.99452038G>A , CM000677.1:g.99452038G>A GRCh37
NC_000015.8:g.97269561G>A NCBI36
NG_009492.1:g.264278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1372G>A ENSP00000496919.1:p.Glu458Lys
ENST00000650285.1:c.1372G>A MANE Select ENSP00000497069.1:p.Glu458Lys
ENST00000268035.10:c.1372G>A ENSP00000268035.6:p.Glu458Lys
ENST00000558762.5:c.1372G>A ENSP00000453007.1:p.Glu458Lys
ENST00000558898.1:c.463G>A ENSP00000454115.1:p.Glu155Lys
ENST00000559582.1:n.279G>A
ENST00000559925.5:n.1372G>A
NM_000875.4:c.1372G>A NP_000866.1:p.Glu458Lys
NM_001291858.1:c.1372G>A NP_001278787.1:p.Glu458Lys
XM_011521513.1:c.1435G>A XP_011519815.1:p.Glu479Lys
XM_011521514.1:c.1435G>A XP_011519816.1:p.Glu479Lys
XM_011521515.1:c.1435G>A XP_011519817.1:p.Glu479Lys
XM_011521516.1:c.463G>A XP_011519818.1:p.Glu155Lys
XM_011521517.1:c.37G>A XP_011519819.1:p.Glu13Lys
XM_011521516.2:c.463G>A XP_011519818.1:p.Glu155Lys
XM_011521517.2:c.37G>A XP_011519819.1:p.Glu13Lys
XM_017022136.1:c.1447G>A XP_016877625.1:p.Glu483Lys
XM_017022137.1:c.1447G>A XP_016877626.1:p.Glu483Lys
XM_017022138.1:c.1447G>A XP_016877627.1:p.Glu483Lys
XM_017022139.1:c.1009G>A XP_016877628.1:p.Glu337Lys
XM_024449913.1:c.463G>A XP_024305681.1:p.Glu155Lys
NM_000875.5:c.1372G>A MANE Select NP_000866.1:p.Glu458Lys
NM_001291858.2:c.1372G>A NP_001278787.1:p.Glu458Lys