Revel Score:
ENST00000389817 (MANE Select)
0.961
ENST00000302539
0.961
ENST00000379493
0.961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17414594C>G , CM000673.2:g.17414594C>G | GRCh38 |
| NC_000011.9:g.17436141C>G , CM000673.1:g.17436141C>G | GRCh37 |
| NC_000011.8:g.17392717C>G | NCBI36 |
| NG_008867.1:g.67309G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1977G>C | ||
| ENST00000529967.6:n.567G>C | ||
| ENST00000642611.2:n.2377G>C | ||
| ENST00000682051.1:n.2324G>C | ||
| ENST00000682110.1:n.2377G>C | ||
| ENST00000682140.1:c.2305G>C | ENSP00000507829.1:p.Ala769Pro | |
| ENST00000682185.1:n.3613G>C | ||
| ENST00000682204.1:c.*446G>C | ENSP00000507094.1:n.*446G>C | |
| ENST00000682215.1:n.2374G>C | ||
| ENST00000682288.1:c.*739G>C | ENSP00000507506.1:n.*739G>C | |
| ENST00000682442.1:n.2498G>C | ||
| ENST00000682528.1:n.2374G>C | ||
| ENST00000682673.1:n.2321G>C | ||
| ENST00000682805.1:n.2374G>C | ||
| ENST00000682965.1:c.2305G>C | ENSP00000508229.1:p.Ala769Pro | |
| ENST00000683093.1:n.2476G>C | ||
| ENST00000683136.1:c.2305G>C | ENSP00000507768.1:p.Ala769Pro | |
| ENST00000683153.1:n.2533G>C | ||
| ENST00000683365.1:n.2479G>C | ||
| ENST00000683377.1:n.2377G>C | ||
| ENST00000683456.1:c.2308G>C | ENSP00000508318.1:p.Ala770Pro | |
| ENST00000683522.1:n.2377G>C | ||
| ENST00000683562.1:c.*477G>C | ENSP00000508265.1:n.*477G>C | |
| ENST00000683693.1:n.2374G>C | ||
| ENST00000683725.1:c.2308G>C | ENSP00000507496.1:p.Ala770Pro | |
| ENST00000684010.1:n.2377G>C | ||
| ENST00000684157.1:n.2377G>C | ||
| ENST00000684253.1:n.2280G>C | ||
| ENST00000684288.1:c.*480G>C | ENSP00000507143.1:n.*480G>C | |
| ENST00000684313.1:n.1809G>C | ||
| ENST00000684332.1:n.2450G>C | ||
| ENST00000684371.1:n.2483G>C | ||
| ENST00000684404.1:n.2374G>C | ||
| ENST00000684442.1:n.2377G>C | ||
| ENST00000684555.1:c.*520G>C | ENSP00000507705.1:n.*520G>C | |
| ENST00000684571.1:c.2149G>C | ENSP00000506935.1:p.Ala717Pro | |
| ENST00000684593.1:c.*2013G>C | ENSP00000507005.1:n.*2013G>C | |
| ENST00000684711.1:c.*704G>C | ENSP00000506841.1:n.*704G>C | |
| ENST00000302539.9:c.2311G>C | ENSP00000303960.4:p.Ala771Pro | |
| ENST00000389817.8:c.2308G>C MANE Select | ENSP00000374467.4:p.Ala770Pro | |
| ENST00000642271.1:c.2305G>C | ENSP00000493749.1:p.Ala769Pro | |
| ENST00000642579.1:c.392G>C | ||
| ENST00000642611.1:n.2262G>C | ||
| ENST00000642902.1:c.2143G>C | ||
| ENST00000643260.1:c.2308G>C | ENSP00000494450.1:p.Ala770Pro | |
| ENST00000643562.1:c.*284G>C | ENSP00000496124.1:n.*284G>C | |
| ENST00000643925.1:c.248G>C | ||
| ENST00000644447.1:c.664G>C | ENSP00000496282.1:p.Ala222Pro | |
| ENST00000644472.1:c.*669G>C | ENSP00000495378.1:n.*669G>C | |
| ENST00000644484.1:c.*517G>C | ENSP00000493558.1:n.*517G>C | |
| ENST00000644542.1:c.*2013G>C | ENSP00000495532.1:n.*2013G>C | |
| ENST00000644675.1:c.*480G>C | ENSP00000494567.1:n.*480G>C | |
| ENST00000644757.1:c.*613G>C | ENSP00000495085.1:n.*613G>C | |
| ENST00000644772.1:c.2374G>C | ENSP00000494321.1:p.Ala792Pro | |
| ENST00000645076.1:c.1560G>C | ||
| ENST00000645744.1:c.*672G>C | ENSP00000494564.1:n.*672G>C | |
| ENST00000645760.1:c.2583G>C | ||
| ENST00000645884.1:c.2308G>C | ENSP00000495516.1:p.Ala770Pro | |
| ENST00000646003.1:c.*449G>C | ENSP00000495259.1:n.*449G>C | |
| ENST00000646207.1:c.*672G>C | ENSP00000495025.1:n.*672G>C | |
| ENST00000646276.1:c.*581G>C | ENSP00000496070.1:n.*581G>C | |
| ENST00000646592.1:c.1534G>C | ||
| ENST00000646902.1:c.2305G>C | ENSP00000494101.1:p.Ala769Pro | |
| ENST00000646993.1:c.*704G>C | ENSP00000493720.1:n.*704G>C | |
| ENST00000647013.1:c.2314G>C | ENSP00000496741.1:n.2314G>C | |
| ENST00000647015.1:c.2059G>C | ENSP00000495389.1:p.Ala687Pro | |
| ENST00000647086.1:c.*2038G>C | ENSP00000493677.1:n.*2038G>C | |
| ENST00000647158.1:c.*449G>C | ENSP00000495744.1:n.*449G>C | |
| ENST00000302539.8:c.2311G>C | ENSP00000303960.4:p.Ala771Pro | |
| ENST00000389817.7:c.2308G>C | ENSP00000374467.3:p.Ala770Pro | |
| ENST00000527905.5:c.2278G>C | ENSP00000431653.1:p.Ala760Pro | |
| ENST00000531911.1:n.422G>C | ||
| NM_000352.4:c.2308G>C | NP_000343.2:p.Ala770Pro | |
| NM_001287174.1:c.2311G>C | NP_001274103.1:p.Ala771Pro | |
| XM_011520331.1:c.2308G>C | XP_011518633.1:p.Ala770Pro | |
| XM_011520332.1:c.2311G>C | XP_011518634.1:p.Ala771Pro | |
| XM_011520333.1:c.808G>C | XP_011518635.1:p.Ala270Pro | |
| XM_011520334.1:c.2311G>C | XP_011518636.1:p.Ala771Pro | |
| XR_930890.1:n.2374G>C | ||
| XR_930891.1:n.2374G>C | ||
| XR_930892.1:n.2374G>C | ||
| XR_930893.1:n.2371G>C | ||
| NM_001351295.1:c.2374G>C | NP_001338224.1:p.Ala792Pro | |
| NM_001351296.1:c.2308G>C | NP_001338225.1:p.Ala770Pro | |
| NM_001351297.1:c.2305G>C | NP_001338226.1:p.Ala769Pro | |
| NR_147094.1:n.2377G>C | ||
| XM_017018197.2:c.2377G>C | XP_016873686.1:p.Ala793Pro | |
| XM_017018199.1:c.2374G>C | XP_016873688.1:p.Ala792Pro | |
| XM_017018201.2:c.2377G>C | XP_016873690.1:p.Ala793Pro | |
| XM_017018202.1:c.874G>C | XP_016873691.1:p.Ala292Pro | |
| XM_017018204.1:c.265G>C | XP_016873693.1:p.Ala89Pro | |
| XM_024448668.1:c.676G>C | XP_024304436.1:p.Ala226Pro | |
| XR_001747945.2:n.2449G>C | ||
| XR_001747946.2:n.2380G>C | ||
| XR_002957189.1:n.2449G>C | ||
| NM_000352.6:c.2308G>C MANE Select | NP_000343.2:p.Ala770Pro | |
| NM_001287174.2:c.2311G>C | NP_001274103.1:p.Ala771Pro | |
| NM_001351295.2:c.2374G>C | NP_001338224.1:p.Ala792Pro | |
| NM_001351296.2:c.2308G>C | NP_001338225.1:p.Ala770Pro | |
| NM_001351297.2:c.2305G>C | NP_001338226.1:p.Ala769Pro | |
| NR_147094.2:n.2377G>C | ||
| NM_001287174.3:c.2311G>C | NP_001274103.1:p.Ala771Pro |