Canonical Allele Identifier: CA393676144
Gene: IGF1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908842A>G , CM000677.2:g.98908842A>G GRCh38
NC_000015.9:g.99452071A>G , CM000677.1:g.99452071A>G GRCh37
NC_000015.8:g.97269594A>G NCBI36
NG_009492.1:g.264311A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1405A>G ENSP00000496919.1:p.Lys469Glu
ENST00000650285.1:c.1405A>G MANE Select ENSP00000497069.1:p.Lys469Glu
ENST00000268035.10:c.1405A>G ENSP00000268035.6:p.Lys469Glu
ENST00000558762.5:c.1405A>G ENSP00000453007.1:p.Lys469Glu
ENST00000558898.1:c.496A>G ENSP00000454115.1:p.Lys166Glu
ENST00000559582.1:n.312A>G
ENST00000559925.5:n.1405A>G
NM_000875.4:c.1405A>G NP_000866.1:p.Lys469Glu
NM_001291858.1:c.1405A>G NP_001278787.1:p.Lys469Glu
XM_011521513.1:c.1468A>G XP_011519815.1:p.Lys490Glu
XM_011521514.1:c.1468A>G XP_011519816.1:p.Lys490Glu
XM_011521515.1:c.1468A>G XP_011519817.1:p.Lys490Glu
XM_011521516.1:c.496A>G XP_011519818.1:p.Lys166Glu
XM_011521517.1:c.70A>G XP_011519819.1:p.Lys24Glu
XM_011521516.2:c.496A>G XP_011519818.1:p.Lys166Glu
XM_011521517.2:c.70A>G XP_011519819.1:p.Lys24Glu
XM_017022136.1:c.1480A>G XP_016877625.1:p.Lys494Glu
XM_017022137.1:c.1480A>G XP_016877626.1:p.Lys494Glu
XM_017022138.1:c.1480A>G XP_016877627.1:p.Lys494Glu
XM_017022139.1:c.1042A>G XP_016877628.1:p.Lys348Glu
XM_024449913.1:c.496A>G XP_024305681.1:p.Lys166Glu
NM_000875.5:c.1405A>G MANE Select NP_000866.1:p.Lys469Glu
NM_001291858.2:c.1405A>G NP_001278787.1:p.Lys469Glu