COSMIC:
COSM5980079 (not active)
Revel Score:
ENST00000378623 (MANE Select)
0.797
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01220922 (SAS)
Genomes Max Group AF
0.00993183 (SAS)
Exomes Max Group AF
0.01221341 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46871604C>T , CM000673.2:g.46871604C>T | GRCh38 |
| NC_000011.9:g.46893155C>T , CM000673.1:g.46893155C>T | GRCh37 |
| NC_000011.8:g.46849731C>T | NCBI36 |
| NG_021394.1:g.52019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.4613G>A (LRP4) MANE Select | ENSP00000367888.1:p.Arg1538Gln | |
| ENST00000378623.5:c.4613G>A (LRP4) | ENSP00000367888.1:p.Arg1538Gln | |
| ENST00000527656.1:n.545G>A (LRP4) | ||
| NM_002334.3:c.4613G>A (LRP4) | NP_002325.2:p.Arg1538Gln | |
| NR_038909.1:n.198-1470C>T (LRP4-AS1) | ||
| XM_011520102.1:c.4826G>A (LRP4) | XP_011518404.1:p.Arg1609Gln | |
| XM_011520103.1:c.3809G>A (LRP4) | XP_011518405.1:p.Arg1270Gln | |
| XM_011520104.1:c.2378G>A (LRP4) | XP_011518406.1:p.Arg793Gln | |
| XM_011520103.2:c.3809G>A (LRP4) | XP_011518405.1:p.Arg1270Gln | |
| XM_011520104.2:c.2378G>A (LRP4) | XP_011518406.1:p.Arg793Gln | |
| XM_017017734.1:c.4613G>A (LRP4) | XP_016873223.1:p.Arg1538Gln | |
| NM_002334.4:c.4613G>A (LRP4) MANE Select | NP_002325.2:p.Arg1538Gln |