Revel Score:
ENST00000381884 (MANE Select)
0.929
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24884083T>A , CM000675.2:g.24884083T>A | GRCh38 |
| NC_000013.10:g.25458221T>A , CM000675.1:g.25458221T>A | GRCh37 |
| NC_000013.9:g.24356221T>A | NCBI36 |
| NG_009165.2:g.43865A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.3704A>T (CENPJ) MANE Select | ENSP00000371308.4:p.Glu1235Val | |
| ENST00000545981.6:c.*444A>T (CENPJ) | ENSP00000441090.2:n.*444A>T | |
| ENST00000381884.8:c.3704A>T (CENPJ) | ENSP00000371308.4:p.Glu1235Val | |
| ENST00000545981.5:c.*445A>T (CENPJ) | ENSP00000441090.2:n.*445A>T | |
| ENST00000616936.4:c.*358A>T (CENPJ) | ENSP00000477511.1:n.*358A>T | |
| NM_018451.4:c.3704A>T (CENPJ) | NP_060921.3:p.Glu1235Val | |
| NR_047594.1:n.4016A>T (CENPJ) | ||
| NR_047595.1:n.3814A>T (CENPJ) | ||
| XM_011535156.1:c.*11-4031T>A (RNF17) | XP_011533458.1:n.*11-4031T>A | |
| XM_011535156.2:c.*11-4031T>A (RNF17) | XP_011533458.1:n.*11-4031T>A | |
| NM_018451.5:c.3704A>T (CENPJ) MANE Select | NP_060921.3:p.Glu1235Val | |
| NR_047594.2:n.3988A>T (CENPJ) | ||
| NR_047595.2:n.3786A>T (CENPJ) |