Canonical Allele Identifier: CA2199274896
Community Standard Title: NM_000875.5(IGF1R):c.3129G= (p.Glu1043=)
Gene: IGF1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98934996G= , CM000677.2:g.98934996G= GRCh38
NC_000015.9:g.99478225G= , CM000677.1:g.99478225G= GRCh37
NC_000015.8:g.97295748G= NCBI36
NG_009492.1:g.290465G=

Transcript Alleles

HGVS Amino-acid Change
NM_000875.5:c.3129G= MANE Select NP_000866.1:p.Glu1043=
ENST00000650285.1:c.3129G= MANE Select ENSP00000497069.1:p.Glu1043=
NM_000875.4:c.3129G= NP_000866.1:p.Glu1043=
NM_001291858.1:c.3126G= NP_001278787.1:p.Glu1042=
NM_001291858.2:c.3126G= NP_001278787.1:p.Glu1042=
ENST00000268035.10:c.3129G= ENSP00000268035.6:p.Glu1043=
ENST00000558762.5:c.3126G= ENSP00000453007.1:p.Glu1042=
ENST00000560972.1:c.260-320G= ENSP00000453180.1:n.260-320G=
ENST00000649865.1:c.3126G= ENSP00000496919.1:p.Glu1042=
XM_011521513.1:c.3192G= XP_011519815.1:p.Glu1064=
XM_011521514.1:c.3192G= XP_011519816.1:p.Glu1064=
XM_011521515.1:c.3189G= XP_011519817.1:p.Glu1063=
XM_011521516.1:c.2220G= XP_011519818.1:p.Glu740=
XM_011521516.2:c.2220G= XP_011519818.1:p.Glu740=
XM_011521517.1:c.1794G= XP_011519819.1:p.Glu598=
XM_011521517.2:c.1794G= XP_011519819.1:p.Glu598=
XM_017022136.1:c.3204G= XP_016877625.1:p.Glu1068=
XM_017022137.1:c.3204G= XP_016877626.1:p.Glu1068=
XM_017022138.1:c.3201G= XP_016877627.1:p.Glu1067=
XM_017022139.1:c.2766G= XP_016877628.1:p.Glu922=
XM_024449913.1:c.2220G= XP_024305681.1:p.Glu740=