Canonical Allele Identifier: CA7752169

Gene: IGF1R

Linked Data

• ClinVar Variation Id: 884757
• ClinVar RCV Id: RCV001115984 ; RCV003718334
• dbSNP Id: rs148974751
• ExAC: 15:99456362 A / G
• gnomAD v2: 15-99456362-A-G
• gnomAD v3: 15-98913133-A-G
• gnomAD v4: 15-98913133-A-G
• MyVariant Identifiers: chr15:g.99456362A>G (hg19) ; chr15:g.98913133A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98913133A>G , CM000677.2:g.98913133A>G	GRCh38
NC_000015.9:g.99456362A>G , CM000677.1:g.99456362A>G	GRCh37
NC_000015.8:g.97273885A>G	NCBI36
NG_009492.1:g.268602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.1679A>G	ENSP00000496919.1:p.Lys560Arg
ENST00000650285.1:c.1679A>G MANE Select	ENSP00000497069.1:p.Lys560Arg
ENST00000268035.10:c.1679A>G	ENSP00000268035.6:p.Lys560Arg
ENST00000558762.5:c.1679A>G	ENSP00000453007.1:p.Lys560Arg
ENST00000559925.5:n.1679A>G
NM_000875.4:c.1679A>G	NP_000866.1:p.Lys560Arg
NM_001291858.1:c.1679A>G	NP_001278787.1:p.Lys560Arg
XM_011521513.1:c.1742A>G	XP_011519815.1:p.Lys581Arg
XM_011521514.1:c.1742A>G	XP_011519816.1:p.Lys581Arg
XM_011521515.1:c.1742A>G	XP_011519817.1:p.Lys581Arg
XM_011521516.1:c.770A>G	XP_011519818.1:p.Lys257Arg
XM_011521517.1:c.344A>G	XP_011519819.1:p.Lys115Arg
XM_011521516.2:c.770A>G	XP_011519818.1:p.Lys257Arg
XM_011521517.2:c.344A>G	XP_011519819.1:p.Lys115Arg
XM_017022136.1:c.1754A>G	XP_016877625.1:p.Lys585Arg
XM_017022137.1:c.1754A>G	XP_016877626.1:p.Lys585Arg
XM_017022138.1:c.1754A>G	XP_016877627.1:p.Lys585Arg
XM_017022139.1:c.1316A>G	XP_016877628.1:p.Lys439Arg
XM_024449913.1:c.770A>G	XP_024305681.1:p.Lys257Arg
NM_000875.5:c.1679A>G MANE Select	NP_000866.1:p.Lys560Arg
NM_001291858.2:c.1679A>G	NP_001278787.1:p.Lys560Arg