Canonical Allele Identifier: CA393697037

Gene: IGF1R

Linked Data

• dbSNP Id: rs1285537503
• gnomAD v2: 15-99251027-C-G
• gnomAD v4: 15-98707798-C-G
• MyVariant Identifiers: chr15:g.99251027C>G (hg19) ; chr15:g.98707798C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.98707798C>G , CM000677.2:g.98707798C>G	GRCh38
NC_000015.9:g.99251027C>G , CM000677.1:g.99251027C>G	GRCh37
NC_000015.8:g.97068550C>G	NCBI36
NG_009492.1:g.63267C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649865.1:c.331C>G	ENSP00000496919.1:p.Leu111Val
ENST00000650285.1:c.331C>G MANE Select	ENSP00000497069.1:p.Leu111Val
ENST00000268035.10:c.331C>G	ENSP00000268035.6:p.Leu111Val
ENST00000558762.5:c.331C>G	ENSP00000453007.1:p.Leu111Val
ENST00000559925.5:n.331C>G
NM_000875.4:c.331C>G	NP_000866.1:p.Leu111Val
NM_001291858.1:c.331C>G	NP_001278787.1:p.Leu111Val
XM_011521513.1:c.331C>G	XP_011519815.1:p.Leu111Val
XM_011521514.1:c.331C>G	XP_011519816.1:p.Leu111Val
XM_011521515.1:c.331C>G	XP_011519817.1:p.Leu111Val
XM_017022136.1:c.406C>G	XP_016877625.1:p.Leu136Val
XM_017022137.1:c.406C>G	XP_016877626.1:p.Leu136Val
XM_017022138.1:c.406C>G	XP_016877627.1:p.Leu136Val
XM_017022139.1:c.-33C>G	XP_016877628.1:n.-33C>G
NM_000875.5:c.331C>G MANE Select	NP_000866.1:p.Leu111Val
NM_001291858.2:c.331C>G	NP_001278787.1:p.Leu111Val