Canonical Allele Identifier: CA393675825
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1372G>T ENSP00000496919.1:p.Glu458Ter
ENST00000650285.1:c.1372G>T MANE Select ENSP00000497069.1:p.Glu458Ter
ENST00000268035.10:c.1372G>T ENSP00000268035.6:p.Glu458Ter
ENST00000558762.5:c.1372G>T ENSP00000453007.1:p.Glu458Ter
ENST00000558898.1:c.463G>T ENSP00000454115.1:p.Glu155Ter
ENST00000559582.1:n.279G>T
ENST00000559925.5:n.1372G>T
NM_000875.4:c.1372G>T NP_000866.1:p.Glu458Ter
NM_001291858.1:c.1372G>T NP_001278787.1:p.Glu458Ter
XM_011521513.1:c.1435G>T XP_011519815.1:p.Glu479Ter
XM_011521514.1:c.1435G>T XP_011519816.1:p.Glu479Ter
XM_011521515.1:c.1435G>T XP_011519817.1:p.Glu479Ter
XM_011521516.1:c.463G>T XP_011519818.1:p.Glu155Ter
XM_011521517.1:c.37G>T XP_011519819.1:p.Glu13Ter
XM_011521516.2:c.463G>T XP_011519818.1:p.Glu155Ter
XM_011521517.2:c.37G>T XP_011519819.1:p.Glu13Ter
XM_017022136.1:c.1447G>T XP_016877625.1:p.Glu483Ter
XM_017022137.1:c.1447G>T XP_016877626.1:p.Glu483Ter
XM_017022138.1:c.1447G>T XP_016877627.1:p.Glu483Ter
XM_017022139.1:c.1009G>T XP_016877628.1:p.Glu337Ter
XM_024449913.1:c.463G>T XP_024305681.1:p.Glu155Ter
NM_000875.5:c.1372G>T MANE Select NP_000866.1:p.Glu458Ter
NM_001291858.2:c.1372G>T NP_001278787.1:p.Glu458Ter