Canonical Allele Identifier: CA492686269

Gene: IGF1R

Linked Data

• ClinVar Variation Id: 3007169
• ClinVar RCV Id: RCV003868808
• dbSNP Id: rs2053901537
• gnomAD v3: 15-98707797-A-G
• gnomAD v4: 15-98707797-A-G
• MyVariant Identifiers: chr15:g.99251026A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98707797A>G , CM000677.2:g.98707797A>G	GRCh38
NC_000015.9:g.99251026A>G , CM000677.1:g.99251026A>G	GRCh37
NC_000015.8:g.97068549A>G	NCBI36
NG_009492.1:g.63266A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649865.1:c.330A>G	ENSP00000496919.1:p.Lys110=
ENST00000650285.1:c.330A>G MANE Select	ENSP00000497069.1:p.Lys110=
ENST00000268035.10:c.330A>G	ENSP00000268035.6:p.Lys110=
ENST00000558762.5:c.330A>G	ENSP00000453007.1:p.Lys110=
ENST00000559925.5:n.330A>G
NM_000875.4:c.330A>G	NP_000866.1:p.Lys110=
NM_001291858.1:c.330A>G	NP_001278787.1:p.Lys110=
XM_011521513.1:c.330A>G	XP_011519815.1:p.Lys110=
XM_011521514.1:c.330A>G	XP_011519816.1:p.Lys110=
XM_011521515.1:c.330A>G	XP_011519817.1:p.Lys110=
XM_017022136.1:c.405A>G	XP_016877625.1:p.Lys135=
XM_017022137.1:c.405A>G	XP_016877626.1:p.Lys135=
XM_017022138.1:c.405A>G	XP_016877627.1:p.Lys135=
XM_017022139.1:c.-34A>G	XP_016877628.1:n.-34A>G
NM_000875.5:c.330A>G MANE Select	NP_000866.1:p.Lys110=
NM_001291858.2:c.330A>G	NP_001278787.1:p.Lys110=