Canonical Allele Identifier: CA7752078

Gene: IGF1R

Linked Data

• dbSNP Id: rs187980012
• ExAC: 15:99452048 G / T
• gnomAD v2: 15-99452048-G-T
• gnomAD v4: 15-98908819-G-T
• MyVariant Identifiers: chr15:g.99452048G>T (hg19) ; chr15:g.98908819G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98908819G>T , CM000677.2:g.98908819G>T	GRCh38
NC_000015.9:g.99452048G>T , CM000677.1:g.99452048G>T	GRCh37
NC_000015.8:g.97269571G>T	NCBI36
NG_009492.1:g.264288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.1382G>T	ENSP00000496919.1:p.Arg461Leu
ENST00000650285.1:c.1382G>T MANE Select	ENSP00000497069.1:p.Arg461Leu
ENST00000268035.10:c.1382G>T	ENSP00000268035.6:p.Arg461Leu
ENST00000558762.5:c.1382G>T	ENSP00000453007.1:p.Arg461Leu
ENST00000558898.1:c.473G>T	ENSP00000454115.1:p.Arg158Leu
ENST00000559582.1:n.289G>T
ENST00000559925.5:n.1382G>T
NM_000875.4:c.1382G>T	NP_000866.1:p.Arg461Leu
NM_001291858.1:c.1382G>T	NP_001278787.1:p.Arg461Leu
XM_011521513.1:c.1445G>T	XP_011519815.1:p.Arg482Leu
XM_011521514.1:c.1445G>T	XP_011519816.1:p.Arg482Leu
XM_011521515.1:c.1445G>T	XP_011519817.1:p.Arg482Leu
XM_011521516.1:c.473G>T	XP_011519818.1:p.Arg158Leu
XM_011521517.1:c.47G>T	XP_011519819.1:p.Arg16Leu
XM_011521516.2:c.473G>T	XP_011519818.1:p.Arg158Leu
XM_011521517.2:c.47G>T	XP_011519819.1:p.Arg16Leu
XM_017022136.1:c.1457G>T	XP_016877625.1:p.Arg486Leu
XM_017022137.1:c.1457G>T	XP_016877626.1:p.Arg486Leu
XM_017022138.1:c.1457G>T	XP_016877627.1:p.Arg486Leu
XM_017022139.1:c.1019G>T	XP_016877628.1:p.Arg340Leu
XM_024449913.1:c.473G>T	XP_024305681.1:p.Arg158Leu
NM_000875.5:c.1382G>T MANE Select	NP_000866.1:p.Arg461Leu
NM_001291858.2:c.1382G>T	NP_001278787.1:p.Arg461Leu