Canonical Allele Identifier: CA393696574

Gene: IGF1R

Linked Data

• ClinVar Variation Id: 2582306
• ClinVar RCV Id: RCV003333272
• dbSNP Id: rs1409058783
• MyVariant Identifiers: chr15:g.99250815G>A (hg19) ; chr15:g.98707586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98707586G>A , CM000677.2:g.98707586G>A	GRCh38
NC_000015.9:g.99250815G>A , CM000677.1:g.99250815G>A	GRCh37
NC_000015.8:g.97068338G>A	NCBI36
NG_009492.1:g.63055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.119G>A	ENSP00000496919.1:p.Arg40His
ENST00000650285.1:c.119G>A MANE Select	ENSP00000497069.1:p.Arg40His
ENST00000268035.10:c.119G>A	ENSP00000268035.6:p.Arg40His
ENST00000558762.5:c.119G>A	ENSP00000453007.1:p.Arg40His
ENST00000559925.5:n.119G>A
NM_000875.4:c.119G>A	NP_000866.1:p.Arg40His
NM_001291858.1:c.119G>A	NP_001278787.1:p.Arg40His
XM_011521513.1:c.119G>A	XP_011519815.1:p.Arg40His
XM_011521514.1:c.119G>A	XP_011519816.1:p.Arg40His
XM_011521515.1:c.119G>A	XP_011519817.1:p.Arg40His
XM_017022136.1:c.194G>A	XP_016877625.1:p.Arg65His
XM_017022137.1:c.194G>A	XP_016877626.1:p.Arg65His
XM_017022138.1:c.194G>A	XP_016877627.1:p.Arg65His
XM_017022139.1:c.-245G>A	XP_016877628.1:n.-245G>A
NM_000875.5:c.119G>A MANE Select	NP_000866.1:p.Arg40His
NM_001291858.2:c.119G>A	NP_001278787.1:p.Arg40His