Canonical Allele Identifier: CA124316
Gene: IGF1R HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.98911384G>A
GRCh37 chr15:g.99454613G>A
Revel Score:
ENST00000268035 0.254
gnomAD v2:
15:99454613 G / A
gnomAD v3:
15:98911384 G / A
gnomAD v4:
chr15-98911384-G-A
Joint Max Group AF 0.00327647 (NFE)
Genomes Max Group AF 0.00270337 (NFE)
Exomes Max Group AF 0.00329352 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98911384G>A , CM000677.2:g.98911384G>A GRCh38
NC_000015.9:g.99454613G>A , CM000677.1:g.99454613G>A GRCh37
NC_000015.8:g.97272136G>A NCBI36
NG_009492.1:g.266853G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649865.1:c.1532G>A ENSP00000496919.1:p.Arg511Gln
ENST00000650285.1:c.1532G>A MANE Select ENSP00000497069.1:p.Arg511Gln
ENST00000268035.10:c.1532G>A ENSP00000268035.6:p.Arg511Gln
ENST00000558762.5:c.1532G>A ENSP00000453007.1:p.Arg511Gln
ENST00000558898.1:c.623G>A ENSP00000454115.1:p.Arg208Gln
ENST00000559582.1:n.439G>A
ENST00000559925.5:n.1532G>A
NM_000875.4:c.1532G>A NP_000866.1:p.Arg511Gln
NM_001291858.1:c.1532G>A NP_001278787.1:p.Arg511Gln
XM_011521513.1:c.1595G>A XP_011519815.1:p.Arg532Gln
XM_011521514.1:c.1595G>A XP_011519816.1:p.Arg532Gln
XM_011521515.1:c.1595G>A XP_011519817.1:p.Arg532Gln
XM_011521516.1:c.623G>A XP_011519818.1:p.Arg208Gln
XM_011521517.1:c.197G>A XP_011519819.1:p.Arg66Gln
XM_011521516.2:c.623G>A XP_011519818.1:p.Arg208Gln
XM_011521517.2:c.197G>A XP_011519819.1:p.Arg66Gln
XM_017022136.1:c.1607G>A XP_016877625.1:p.Arg536Gln
XM_017022137.1:c.1607G>A XP_016877626.1:p.Arg536Gln
XM_017022138.1:c.1607G>A XP_016877627.1:p.Arg536Gln
XM_017022139.1:c.1169G>A XP_016877628.1:p.Arg390Gln
XM_024449913.1:c.623G>A XP_024305681.1:p.Arg208Gln
NM_000875.5:c.1532G>A MANE Select NP_000866.1:p.Arg511Gln
NM_001291858.2:c.1532G>A NP_001278787.1:p.Arg511Gln
Search 100 bp 5'
Search 100 bp 3'