LDH info

Canonical Allele Identifier: CA203246
Gene: IGF1R HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 198108
dbSNP Id: rs34516635

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.98908747G>A , CM000677.2:g.98908747G>A GRCh38
NC_000015.9:g.99451976G>A , CM000677.1:g.99451976G>A GRCh37
NC_000015.8:g.97269499G>A NCBI36
NG_009492.1:g.264216G>A

Transcript Alleles

HGVS Amino-acid change
NM_000875.4:c.1310G>A VV NP_000866.1:p.Arg437His
NM_001291858.1:c.1310G>A VV NP_001278787.1:p.Arg437His
XM_011521513.1:c.1373G>A XP_011519815.1:p.Arg458His
XM_011521514.1:c.1373G>A XP_011519816.1:p.Arg458His
XM_011521515.1:c.1373G>A XP_011519817.1:p.Arg458His
XM_011521516.1:c.401G>A XP_011519818.1:p.Arg134His
XM_011521517.1:c.-26G>A XP_011519819.1:p.=
XM_011521516.2:c.401G>A XP_011519818.1:p.Arg134His
XM_011521517.2:c.-26G>A XP_011519819.1:p.=
XM_017022136.1:c.1385G>A XP_016877625.1:p.Arg462His
XM_017022137.1:c.1385G>A XP_016877626.1:p.Arg462His
XM_017022138.1:c.1385G>A XP_016877627.1:p.Arg462His
XM_017022139.1:c.947G>A XP_016877628.1:p.Arg316His
XM_024449913.1:c.401G>A XP_024305681.1:p.Arg134His
NM_000875.5:c.1310G>A VV MANE Preferred NP_000866.1:p.Arg437His
NM_001291858.2:c.1310G>A VV NP_001278787.1:p.Arg437His
ENST00000268035.10:c.1310G>A ENSP00000268035.6:p.Arg437His
ENST00000558762.5:c.1310G>A ENSP00000453007.1:p.Arg437His
ENST00000558898.1:c.401G>A ENSP00000454115.1:p.Arg134His
ENST00000559582.1:n.217G>A
ENST00000559925.5:n.1310G>A