Revel Score:
ENST00000378623 (MANE Select)
0.906
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46871557T>A , CM000673.2:g.46871557T>A | GRCh38 |
| NC_000011.9:g.46893108T>A , CM000673.1:g.46893108T>A | GRCh37 |
| NC_000011.8:g.46849684T>A | NCBI36 |
| NG_021394.1:g.52066A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.4660A>T (LRP4) MANE Select | ENSP00000367888.1:p.Ser1554Cys | |
| ENST00000378623.5:c.4660A>T (LRP4) | ENSP00000367888.1:p.Ser1554Cys | |
| ENST00000527656.1:n.592A>T (LRP4) | ||
| NM_002334.3:c.4660A>T (LRP4) | NP_002325.2:p.Ser1554Cys | |
| NR_038909.1:n.198-1517T>A (LRP4-AS1) | ||
| XM_011520102.1:c.4873A>T (LRP4) | XP_011518404.1:p.Ser1625Cys | |
| XM_011520103.1:c.3856A>T (LRP4) | XP_011518405.1:p.Ser1286Cys | |
| XM_011520104.1:c.2425A>T (LRP4) | XP_011518406.1:p.Ser809Cys | |
| XM_011520103.2:c.3856A>T (LRP4) | XP_011518405.1:p.Ser1286Cys | |
| XM_011520104.2:c.2425A>T (LRP4) | XP_011518406.1:p.Ser809Cys | |
| XM_017017734.1:c.4660A>T (LRP4) | XP_016873223.1:p.Ser1554Cys | |
| NM_002334.4:c.4660A>T (LRP4) MANE Select | NP_002325.2:p.Ser1554Cys |