Revel Score:
ENST00000432788
0.359
ENST00000370321 (MANE Select)
0.359
ENST00000315741
0.359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92836289T>C , CM000663.2:g.92836289T>C | GRCh38 |
| NC_000001.10:g.93301846T>C , CM000663.1:g.93301846T>C | GRCh37 |
| NC_000001.9:g.93074434T>C | NCBI36 |
| NG_011779.1:g.9253T>C | |
| NG_033051.1:g.130234A>G | |
| NG_011779.2:g.9304T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.424T>C (RPL5) MANE Select | ENSP00000359345.2:p.Phe142Leu | |
| ENST00000645119.1:c.324+1376T>C (RPL5) | ENSP00000493811.1:n.324+1376T>C | |
| ENST00000645300.1:c.274T>C (RPL5) | ENSP00000495589.1:p.Phe92Leu | |
| ENST00000645908.1:n.158T>C (RPL5) | ||
| ENST00000315741.5:c.274T>C (RPL5) | ENSP00000359338.2:p.Phe92Leu | |
| ENST00000370321.7:c.424T>C (RPL5) | ENSP00000359345.2:p.Phe142Leu | |
| ENST00000470843.5:c.*386T>C (RPL5) | ENSP00000473675.1:n.*386T>C | |
| ENST00000615519.4:c.475-3255A>G (DIPK1A) | ENSP00000483279.1:n.475-3255A>G | |
| NM_000969.3:c.424T>C (RPL5) | NP_000960.2:p.Phe142Leu | |
| NM_001252273.1:c.475-3255A>G (DIPK1A) | NP_001239202.1:n.475-3255A>G | |
| NM_000969.5:c.424T>C (RPL5) MANE Select | NP_000960.2:p.Phe142Leu | |
| NR_146333.1:n.483T>C (RPL5) | ||
| NM_001252273.2:c.475-3255A>G (DIPK1A) | NP_001239202.1:n.475-3255A>G |