Canonical Allele Identifier: CA7752085

Gene: IGF1R

Linked Data

• ClinVar Variation Id: 713639
• ClinVar RCV Id: RCV000885810
• dbSNP Id: rs139181377
• ExAC: 15:99452118 G / A
• gnomAD v2: 15-99452118-G-A
• gnomAD v3: 15-98908889-G-A
• gnomAD v4: 15-98908889-G-A
• MyVariant Identifiers: chr15:g.99452118G>A (hg19) ; chr15:g.98908889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98908889G>A , CM000677.2:g.98908889G>A	GRCh38
NC_000015.9:g.99452118G>A , CM000677.1:g.99452118G>A	GRCh37
NC_000015.8:g.97269641G>A	NCBI36
NG_009492.1:g.264358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.1452G>A	ENSP00000496919.1:p.Glu484=
ENST00000650285.1:c.1452G>A MANE Select	ENSP00000497069.1:p.Glu484=
ENST00000268035.10:c.1452G>A	ENSP00000268035.6:p.Glu484=
ENST00000558762.5:c.1452G>A	ENSP00000453007.1:p.Glu484=
ENST00000558898.1:c.543G>A	ENSP00000454115.1:p.Glu181=
ENST00000559582.1:n.359G>A
ENST00000559925.5:n.1452G>A
NM_000875.4:c.1452G>A	NP_000866.1:p.Glu484=
NM_001291858.1:c.1452G>A	NP_001278787.1:p.Glu484=
XM_011521513.1:c.1515G>A	XP_011519815.1:p.Glu505=
XM_011521514.1:c.1515G>A	XP_011519816.1:p.Glu505=
XM_011521515.1:c.1515G>A	XP_011519817.1:p.Glu505=
XM_011521516.1:c.543G>A	XP_011519818.1:p.Glu181=
XM_011521517.1:c.117G>A	XP_011519819.1:p.Glu39=
XM_011521516.2:c.543G>A	XP_011519818.1:p.Glu181=
XM_011521517.2:c.117G>A	XP_011519819.1:p.Glu39=
XM_017022136.1:c.1527G>A	XP_016877625.1:p.Glu509=
XM_017022137.1:c.1527G>A	XP_016877626.1:p.Glu509=
XM_017022138.1:c.1527G>A	XP_016877627.1:p.Glu509=
XM_017022139.1:c.1089G>A	XP_016877628.1:p.Glu363=
XM_024449913.1:c.543G>A	XP_024305681.1:p.Glu181=
NM_000875.5:c.1452G>A MANE Select	NP_000866.1:p.Glu484=
NM_001291858.2:c.1452G>A	NP_001278787.1:p.Glu484=