Canonical Allele Identifier: CA10604111
Gene: IGF1R HGNC NCBI

Linked Data

ClinVar Variation Id: 282227
ClinVar RCV Id: RCV000333916
dbSNP Id: rs886042346

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98935314A>T , CM000677.2:g.98935314A>T GRCh38
NC_000015.9:g.99478543A>T , CM000677.1:g.99478543A>T GRCh37
NC_000015.8:g.97296066A>T NCBI36
NG_009492.1:g.290783A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000649865.1:c.3184-2A>T ENSP00000496919.1:n.3184-2A>T
ENST00000650285.1:c.3187-2A>T MANE Select ENSP00000497069.1:n.3187-2A>T
ENST00000268035.10:c.3187-2A>T ENSP00000268035.6:n.3187-2A>T
ENST00000558762.5:c.3184-2A>T ENSP00000453007.1:n.3184-2A>T
ENST00000560972.1:c.260-2A>T ENSP00000453180.1:n.260-2A>T
NM_000875.4:c.3187-2A>T NP_000866.1:n.3187-2A>T
NM_001291858.1:c.3184-2A>T NP_001278787.1:n.3184-2A>T
XM_011521513.1:c.3250-2A>T XP_011519815.1:n.3250-2A>T
XM_011521514.1:c.3250-2A>T XP_011519816.1:n.3250-2A>T
XM_011521515.1:c.3247-2A>T XP_011519817.1:n.3247-2A>T
XM_011521516.1:c.2278-2A>T XP_011519818.1:n.2278-2A>T
XM_011521517.1:c.1852-2A>T XP_011519819.1:n.1852-2A>T
XM_011521516.2:c.2278-2A>T XP_011519818.1:n.2278-2A>T
XM_011521517.2:c.1852-2A>T XP_011519819.1:n.1852-2A>T
XM_017022136.1:c.3262-2A>T XP_016877625.1:n.3262-2A>T
XM_017022137.1:c.3262-2A>T XP_016877626.1:n.3262-2A>T
XM_017022138.1:c.3259-2A>T XP_016877627.1:n.3259-2A>T
XM_017022139.1:c.2824-2A>T XP_016877628.1:n.2824-2A>T
XM_024449913.1:c.2278-2A>T XP_024305681.1:n.2278-2A>T
NM_000875.5:c.3187-2A>T MANE Select NP_000866.1:n.3187-2A>T
NM_001291858.2:c.3184-2A>T NP_001278787.1:n.3184-2A>T