Canonical Allele Identifier: CA393676524

Gene: IGF1R

Linked Data

• gnomAD v4: 15-98908891-G-C
• MyVariant Identifiers: chr15:g.99452120G>C (hg19) ; chr15:g.98908891G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98908891G>C , CM000677.2:g.98908891G>C	GRCh38
NC_000015.9:g.99452120G>C , CM000677.1:g.99452120G>C	GRCh37
NC_000015.8:g.97269643G>C	NCBI36
NG_009492.1:g.264360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.1454G>C	ENSP00000496919.1:p.Arg485Thr
ENST00000650285.1:c.1454G>C MANE Select	ENSP00000497069.1:p.Arg485Thr
ENST00000268035.10:c.1454G>C	ENSP00000268035.6:p.Arg485Thr
ENST00000558762.5:c.1454G>C	ENSP00000453007.1:p.Arg485Thr
ENST00000558898.1:c.545G>C	ENSP00000454115.1:p.Arg182Thr
ENST00000559582.1:n.361G>C
ENST00000559925.5:n.1454G>C
NM_000875.4:c.1454G>C	NP_000866.1:p.Arg485Thr
NM_001291858.1:c.1454G>C	NP_001278787.1:p.Arg485Thr
XM_011521513.1:c.1517G>C	XP_011519815.1:p.Arg506Thr
XM_011521514.1:c.1517G>C	XP_011519816.1:p.Arg506Thr
XM_011521515.1:c.1517G>C	XP_011519817.1:p.Arg506Thr
XM_011521516.1:c.545G>C	XP_011519818.1:p.Arg182Thr
XM_011521517.1:c.119G>C	XP_011519819.1:p.Arg40Thr
XM_011521516.2:c.545G>C	XP_011519818.1:p.Arg182Thr
XM_011521517.2:c.119G>C	XP_011519819.1:p.Arg40Thr
XM_017022136.1:c.1529G>C	XP_016877625.1:p.Arg510Thr
XM_017022137.1:c.1529G>C	XP_016877626.1:p.Arg510Thr
XM_017022138.1:c.1529G>C	XP_016877627.1:p.Arg510Thr
XM_017022139.1:c.1091G>C	XP_016877628.1:p.Arg364Thr
XM_024449913.1:c.545G>C	XP_024305681.1:p.Arg182Thr
NM_000875.5:c.1454G>C MANE Select	NP_000866.1:p.Arg485Thr
NM_001291858.2:c.1454G>C	NP_001278787.1:p.Arg485Thr