Revel Score:
ENST00000358763 (MANE Select)
0.259
ENST00000332840
0.259
ENST00000445154
0.259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32518208G>A , CM000684.2:g.32518208G>A | GRCh38 |
| NC_000022.10:g.32914195G>A , CM000684.1:g.32914195G>A | GRCh37 |
| NC_000022.9:g.31244195G>A | NCBI36 |
| NG_029545.1:g.545183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358763.7:c.1445C>T MANE Select | ENSP00000351614.2:p.Pro482Leu | |
| ENST00000332840.9:c.674C>T | ENSP00000330219.6:p.Pro225Leu | |
| ENST00000358763.6:c.1445C>T | ENSP00000351614.2:p.Pro482Leu | |
| ENST00000459990.5:n.418C>T | ||
| ENST00000461446.1:n.336C>T | ||
| ENST00000467095.5:n.427C>T | ||
| ENST00000468922.1:n.492C>T | ||
| ENST00000483062.5:n.413C>T | ||
| NM_001135774.1:c.1442C>T | NP_001129246.1:p.Pro481Leu | |
| NM_003490.3:c.1445C>T | NP_003481.3:p.Pro482Leu | |
| NM_133633.2:c.1319-4384C>T | NP_598344.2:n.1319-4384C>T | |
| XM_011530405.1:c.1445C>T | XP_011528707.1:p.Pro482Leu | |
| XM_011530406.1:c.1445C>T | XP_011528708.1:p.Pro482Leu | |
| XM_011530407.1:c.1445C>T | XP_011528709.1:p.Pro482Leu | |
| XM_011530408.1:c.1445C>T | XP_011528710.1:p.Pro482Leu | |
| XM_011530409.1:c.1445C>T | XP_011528711.1:p.Pro482Leu | |
| XM_011530410.1:c.1091C>T | XP_011528712.1:p.Pro364Leu | |
| XM_011530411.1:c.*37C>T | XP_011528713.1:n.*37C>T | |
| XM_011530412.1:c.680C>T | XP_011528714.1:p.Pro227Leu | |
| XR_937927.1:n.1929C>T | ||
| XM_011530405.3:c.1445C>T | XP_011528707.1:p.Pro482Leu | |
| XM_011530406.3:c.1445C>T | XP_011528708.1:p.Pro482Leu | |
| XM_011530407.3:c.1445C>T | XP_011528709.1:p.Pro482Leu | |
| XM_011530408.2:c.1445C>T | XP_011528710.1:p.Pro482Leu | |
| XM_011530410.3:c.1091C>T | XP_011528712.1:p.Pro364Leu | |
| XM_017028961.2:c.1445C>T | XP_016884450.1:p.Pro482Leu | |
| XM_017028962.2:c.1445C>T | XP_016884451.1:p.Pro482Leu | |
| XM_017028963.2:c.1445C>T | XP_016884452.1:p.Pro482Leu | |
| XM_017028964.2:c.1442C>T | XP_016884453.1:p.Pro481Leu | |
| XM_017028965.2:c.620C>T | XP_016884454.1:p.Pro207Leu | |
| XR_001755317.2:n.1594C>T | ||
| NM_001135774.2:c.1442C>T | NP_001129246.1:p.Pro481Leu | |
| NM_001369907.1:c.1445C>T | NP_001356836.1:p.Pro482Leu | |
| NM_001369908.1:c.1445C>T | NP_001356837.1:p.Pro482Leu | |
| NM_001369909.1:c.1442C>T | NP_001356838.1:p.Pro481Leu | |
| NM_001369910.1:c.1442C>T | NP_001356839.1:p.Pro481Leu | |
| NM_003490.4:c.1445C>T MANE Select | NP_003481.3:p.Pro482Leu | |
| NM_133633.3:c.1319-4384C>T | NP_598344.2:n.1319-4384C>T |