Revel Score:
ENST00000355091 (MANE Select)
0.338
ENST00000361036
0.338
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144085043G>C , CM000670.2:g.144085043G>C | GRCh38 |
| NC_000008.10:g.145139946G>C , CM000670.1:g.145139946G>C | GRCh37 |
| NC_000008.9:g.145211934G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361036.11:c.985G>C | ENSP00000354316.6:p.Ala329Pro | |
| ENST00000524418.6:c.1123G>C | ENSP00000434544.2:p.Ala375Pro | |
| ENST00000525087.6:c.949G>C | ENSP00000434485.3:p.Ala317Pro | |
| ENST00000525308.2:n.1727G>C | ||
| ENST00000526341.6:c.*707G>C | ENSP00000515386.1:n.*707G>C | |
| ENST00000527144.6:c.*194G>C | ENSP00000515403.1:n.*194G>C | |
| ENST00000528073.6:c.*483G>C | ENSP00000435119.1:n.*483G>C | |
| ENST00000529503.6:c.*612G>C | ENSP00000435024.1:n.*612G>C | |
| ENST00000529638.2:n.1429G>C | ||
| ENST00000530258.2:n.1570G>C | ||
| ENST00000530796.2:n.1256G>C | ||
| ENST00000531593.2:n.950G>C | ||
| ENST00000532758.6:n.1772G>C | ||
| ENST00000534072.2:n.294G>C | ||
| ENST00000703441.1:n.1266G>C | ||
| ENST00000703620.1:c.1159G>C | ENSP00000515404.1:p.Ala387Pro | |
| ENST00000703621.1:c.1165G>C | ENSP00000515405.1:p.Ala389Pro | |
| ENST00000703622.1:c.1165G>C | ENSP00000515406.1:p.Ala389Pro | |
| ENST00000703623.1:n.996G>C | ||
| ENST00000703631.1:c.*194G>C | ENSP00000515409.1:n.*194G>C | |
| ENST00000703632.1:n.1344G>C | ||
| ENST00000703633.1:c.1123G>C | ENSP00000515410.1:p.Ala375Pro | |
| ENST00000703634.1:c.911G>C | ||
| ENST00000703635.1:c.799G>C | ENSP00000515412.1:p.Ala267Pro | |
| ENST00000703647.1:n.1646G>C | ||
| ENST00000703648.1:c.1165G>C | ENSP00000515415.1:p.Ala389Pro | |
| ENST00000703649.1:c.1165G>C | ENSP00000515416.1:p.Ala389Pro | |
| ENST00000703650.1:n.1635G>C | ||
| ENST00000703651.1:n.1395G>C | ||
| ENST00000703652.1:n.830G>C | ||
| ENST00000703653.1:n.1233G>C | ||
| ENST00000703654.1:n.789G>C | ||
| ENST00000703670.1:n.1516G>C | ||
| ENST00000703671.1:n.1724G>C | ||
| ENST00000703672.1:c.*602G>C | ENSP00000515424.1:n.*602G>C | |
| ENST00000703673.1:n.1194G>C | ||
| ENST00000703675.1:n.1451G>C | ||
| ENST00000703676.1:n.1117G>C | ||
| ENST00000703678.1:n.1103G>C | ||
| ENST00000703679.1:n.915G>C | ||
| ENST00000703681.1:n.1802G>C | ||
| ENST00000703682.1:c.841G>C | ||
| ENST00000703720.1:c.*779G>C | ENSP00000515449.1:n.*779G>C | |
| ENST00000703721.1:n.1517G>C | ||
| ENST00000703722.1:n.1395G>C | ||
| ENST00000703723.1:n.1616G>C | ||
| ENST00000703724.1:n.554G>C | ||
| ENST00000703725.1:c.1011-246G>C | ENSP00000515450.1:n.1011-246G>C | |
| ENST00000704789.1:c.763G>C | ENSP00000516036.1:p.Ala255Pro | |
| ENST00000704790.1:n.1614G>C | ||
| ENST00000704791.1:c.807G>C | ||
| ENST00000704793.1:n.759G>C | ||
| ENST00000704794.1:c.799G>C | ENSP00000516039.1:p.Ala267Pro | |
| ENST00000704795.1:n.1109G>C | ||
| ENST00000704796.1:n.1315G>C | ||
| ENST00000704797.1:n.1665G>C | ||
| ENST00000704798.1:n.1102G>C | ||
| ENST00000704799.1:n.964G>C | ||
| ENST00000704806.1:c.985G>C | ENSP00000516043.1:p.Ala329Pro | |
| ENST00000704807.1:c.1159G>C | ENSP00000516044.1:p.Ala387Pro | |
| ENST00000704808.1:c.*43+68G>C | ENSP00000516045.1:n.*43+68G>C | |
| ENST00000704809.1:c.1123G>C | ENSP00000516046.1:p.Ala375Pro | |
| ENST00000704810.1:n.1270G>C | ||
| ENST00000704811.1:c.911G>C | ||
| ENST00000704812.1:n.760-246G>C | ||
| ENST00000704813.1:n.979G>C | ||
| ENST00000355091.9:c.1165G>C MANE Select | ENSP00000347206.4:p.Ala389Pro | |
| ENST00000355091.8:c.1165G>C | ENSP00000347206.4:p.Ala389Pro | |
| ENST00000361036.10:c.985G>C | ENSP00000354316.6:p.Ala329Pro | |
| ENST00000527653.1:n.804G>C | ||
| ENST00000529638.1:n.659G>C | ||
| ENST00000530796.1:n.84G>C | ||
| ENST00000531593.1:n.140G>C | ||
| ENST00000534072.1:n.192G>C | ||
| NM_003801.3:c.1165G>C | NP_003792.1:p.Ala389Pro | |
| NM_003801.4:c.1165G>C MANE Select | NP_003792.1:p.Ala389Pro |