Canonical Allele Identifier: CA7751770

Gene: IGF1R

Linked Data

• ClinVar Variation Id: 1328356
• ClinVar RCV Id: RCV001795788
• dbSNP Id: rs34868731
• ExAC: 15:99250933 G / A
• gnomAD v2: 15-99250933-G-A
• gnomAD v3: 15-98707704-G-A
• gnomAD v4: 15-98707704-G-A
• COSMIC: COSM3377707
• MyVariant Identifiers: chr15:g.99250933G>A (hg19) ; chr15:g.98707704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98707704G>A , CM000677.2:g.98707704G>A	GRCh38
NC_000015.9:g.99250933G>A , CM000677.1:g.99250933G>A	GRCh37
NC_000015.8:g.97068456G>A	NCBI36
NG_009492.1:g.63173G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000649865.1:c.237G>A	ENSP00000496919.1:p.Thr79=
ENST00000650285.1:c.237G>A MANE Select	ENSP00000497069.1:p.Thr79=
ENST00000268035.10:c.237G>A	ENSP00000268035.6:p.Thr79=
ENST00000558762.5:c.237G>A	ENSP00000453007.1:p.Thr79=
ENST00000559925.5:n.237G>A
NM_000875.4:c.237G>A	NP_000866.1:p.Thr79=
NM_001291858.1:c.237G>A	NP_001278787.1:p.Thr79=
XM_011521513.1:c.237G>A	XP_011519815.1:p.Thr79=
XM_011521514.1:c.237G>A	XP_011519816.1:p.Thr79=
XM_011521515.1:c.237G>A	XP_011519817.1:p.Thr79=
XM_017022136.1:c.312G>A	XP_016877625.1:p.Thr104=
XM_017022137.1:c.312G>A	XP_016877626.1:p.Thr104=
XM_017022138.1:c.312G>A	XP_016877627.1:p.Thr104=
XM_017022139.1:c.-127G>A	XP_016877628.1:n.-127G>A
NM_000875.5:c.237G>A MANE Select	NP_000866.1:p.Thr79=
NM_001291858.2:c.237G>A	NP_001278787.1:p.Thr79=