Revel Score:
ENST00000378623 (MANE Select)
0.598
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00180203 (SAS)
Genomes Max Group AF
0.00112327 (SAS)
Exomes Max Group AF
0.00179351 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46862661T>G , CM000673.2:g.46862661T>G | GRCh38 |
| NC_000011.9:g.46884212T>G , CM000673.1:g.46884212T>G | GRCh37 |
| NC_000011.8:g.46840788T>G | NCBI36 |
| NG_021394.1:g.60962A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.5330A>C (LRP4) MANE Select | ENSP00000367888.1:p.Lys1777Thr | |
| ENST00000378623.5:c.5330A>C (LRP4) | ENSP00000367888.1:p.Lys1777Thr | |
| ENST00000529604.1:n.273A>C (LRP4) | ||
| NM_002334.3:c.5330A>C (LRP4) | NP_002325.2:p.Lys1777Thr | |
| NR_038909.1:n.198-10413T>G (LRP4-AS1) | ||
| XM_011520102.1:c.5543A>C (LRP4) | XP_011518404.1:p.Lys1848Thr | |
| XM_011520103.1:c.4526A>C (LRP4) | XP_011518405.1:p.Lys1509Thr | |
| XM_011520104.1:c.3095A>C (LRP4) | XP_011518406.1:p.Lys1032Thr | |
| XM_011520103.2:c.4526A>C (LRP4) | XP_011518405.1:p.Lys1509Thr | |
| XM_011520104.2:c.3095A>C (LRP4) | XP_011518406.1:p.Lys1032Thr | |
| XM_017017734.1:c.5330A>C (LRP4) | XP_016873223.1:p.Lys1777Thr | |
| NM_002334.4:c.5330A>C (LRP4) MANE Select | NP_002325.2:p.Lys1777Thr |