Canonical Allele Identifier: CA7751767

Gene: IGF1R

Linked Data

• ClinVar Variation Id: 281171
• ClinVar RCV Id: RCV000265225 ; RCV000378865 ; RCV000906621
• dbSNP Id: rs55770488
• ExAC: 15:99250921 C / T
• gnomAD v2: 15-99250921-C-T
• gnomAD v3: 15-98707692-C-T
• gnomAD v4: 15-98707692-C-T
• MyVariant Identifiers: chr15:g.99250921C>T (hg19) ; chr15:g.98707692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98707692C>T , CM000677.2:g.98707692C>T	GRCh38
NC_000015.9:g.99250921C>T , CM000677.1:g.99250921C>T	GRCh37
NC_000015.8:g.97068444C>T	NCBI36
NG_009492.1:g.63161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649865.1:c.225C>T	ENSP00000496919.1:p.Phe75=
ENST00000650285.1:c.225C>T MANE Select	ENSP00000497069.1:p.Phe75=
ENST00000268035.10:c.225C>T	ENSP00000268035.6:p.Phe75=
ENST00000558762.5:c.225C>T	ENSP00000453007.1:p.Phe75=
ENST00000559925.5:n.225C>T
NM_000875.4:c.225C>T	NP_000866.1:p.Phe75=
NM_001291858.1:c.225C>T	NP_001278787.1:p.Phe75=
XM_011521513.1:c.225C>T	XP_011519815.1:p.Phe75=
XM_011521514.1:c.225C>T	XP_011519816.1:p.Phe75=
XM_011521515.1:c.225C>T	XP_011519817.1:p.Phe75=
XM_017022136.1:c.300C>T	XP_016877625.1:p.Phe100=
XM_017022137.1:c.300C>T	XP_016877626.1:p.Phe100=
XM_017022138.1:c.300C>T	XP_016877627.1:p.Phe100=
XM_017022139.1:c.-139C>T	XP_016877628.1:n.-139C>T
NM_000875.5:c.225C>T MANE Select	NP_000866.1:p.Phe75=
NM_001291858.2:c.225C>T	NP_001278787.1:p.Phe75=