Canonical Allele Identifier: CA393697104
Gene: IGF1R HGNC NCBI

Linked Data

ClinVar Variation Id: 446754
ClinVar RCV Id: RCV000516173
dbSNP Id: rs1555434208

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98707828G>A , CM000677.2:g.98707828G>A GRCh38
NC_000015.9:g.99251057G>A , CM000677.1:g.99251057G>A GRCh37
NC_000015.8:g.97068580G>A NCBI36
NG_009492.1:g.63297G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.361G>A ENSP00000496919.1:p.Glu121Lys
ENST00000650285.1:c.361G>A MANE Select ENSP00000497069.1:p.Glu121Lys
ENST00000268035.10:c.361G>A ENSP00000268035.6:p.Glu121Lys
ENST00000558762.5:c.361G>A ENSP00000453007.1:p.Glu121Lys
ENST00000559925.5:n.361G>A
NM_000875.4:c.361G>A NP_000866.1:p.Glu121Lys
NM_001291858.1:c.361G>A NP_001278787.1:p.Glu121Lys
XM_011521513.1:c.361G>A XP_011519815.1:p.Glu121Lys
XM_011521514.1:c.361G>A XP_011519816.1:p.Glu121Lys
XM_011521515.1:c.361G>A XP_011519817.1:p.Glu121Lys
XM_017022136.1:c.436G>A XP_016877625.1:p.Glu146Lys
XM_017022137.1:c.436G>A XP_016877626.1:p.Glu146Lys
XM_017022138.1:c.436G>A XP_016877627.1:p.Glu146Lys
XM_017022139.1:c.-3G>A XP_016877628.1:n.-3G>A
NM_000875.5:c.361G>A MANE Select NP_000866.1:p.Glu121Lys
NM_001291858.2:c.361G>A NP_001278787.1:p.Glu121Lys