Revel Score:
ENST00000389817 (MANE Select)
0.932
ENST00000302539
0.932
ENST00000379493
0.932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17414512C>A , CM000673.2:g.17414512C>A | GRCh38 |
| NC_000011.9:g.17436059C>A , CM000673.1:g.17436059C>A | GRCh37 |
| NC_000011.8:g.17392635C>A | NCBI36 |
| NG_008867.1:g.67391G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2059G>T | ||
| ENST00000529967.6:n.649G>T | ||
| ENST00000642611.2:n.2459G>T | ||
| ENST00000682051.1:n.2406G>T | ||
| ENST00000682110.1:n.2459G>T | ||
| ENST00000682140.1:c.2387G>T | ENSP00000507829.1:p.Arg796Leu | |
| ENST00000682185.1:n.3695G>T | ||
| ENST00000682204.1:c.*528G>T | ENSP00000507094.1:n.*528G>T | |
| ENST00000682215.1:n.2456G>T | ||
| ENST00000682288.1:c.*821G>T | ENSP00000507506.1:n.*821G>T | |
| ENST00000682442.1:n.2580G>T | ||
| ENST00000682528.1:n.2456G>T | ||
| ENST00000682673.1:n.2403G>T | ||
| ENST00000682805.1:n.2456G>T | ||
| ENST00000682965.1:c.2387G>T | ENSP00000508229.1:p.Arg796Leu | |
| ENST00000683093.1:n.2558G>T | ||
| ENST00000683136.1:c.2387G>T | ENSP00000507768.1:p.Arg796Leu | |
| ENST00000683153.1:n.2615G>T | ||
| ENST00000683365.1:n.2561G>T | ||
| ENST00000683377.1:n.2459G>T | ||
| ENST00000683456.1:c.2390G>T | ENSP00000508318.1:p.Arg797Leu | |
| ENST00000683522.1:n.2459G>T | ||
| ENST00000683562.1:c.*559G>T | ENSP00000508265.1:n.*559G>T | |
| ENST00000683693.1:n.2456G>T | ||
| ENST00000683725.1:c.2390G>T | ENSP00000507496.1:p.Arg797Leu | |
| ENST00000684010.1:n.2459G>T | ||
| ENST00000684157.1:n.2459G>T | ||
| ENST00000684253.1:n.2362G>T | ||
| ENST00000684288.1:c.*562G>T | ENSP00000507143.1:n.*562G>T | |
| ENST00000684313.1:n.1891G>T | ||
| ENST00000684332.1:n.2532G>T | ||
| ENST00000684371.1:n.2565G>T | ||
| ENST00000684404.1:n.2456G>T | ||
| ENST00000684442.1:n.2459G>T | ||
| ENST00000684555.1:c.*602G>T | ENSP00000507705.1:n.*602G>T | |
| ENST00000684571.1:c.2231G>T | ENSP00000506935.1:p.Arg744Leu | |
| ENST00000684593.1:c.*2095G>T | ENSP00000507005.1:n.*2095G>T | |
| ENST00000684711.1:c.*786G>T | ENSP00000506841.1:n.*786G>T | |
| ENST00000302539.9:c.2393G>T | ENSP00000303960.4:p.Arg798Leu | |
| ENST00000389817.8:c.2390G>T MANE Select | ENSP00000374467.4:p.Arg797Leu | |
| ENST00000642271.1:c.2387G>T | ENSP00000493749.1:p.Arg796Leu | |
| ENST00000642579.1:c.474G>T | ||
| ENST00000642611.1:n.2344G>T | ||
| ENST00000642902.1:c.2225G>T | ||
| ENST00000643260.1:c.2390G>T | ENSP00000494450.1:p.Arg797Leu | |
| ENST00000643562.1:c.*366G>T | ENSP00000496124.1:n.*366G>T | |
| ENST00000643925.1:c.330G>T | ||
| ENST00000644447.1:c.746G>T | ENSP00000496282.1:p.Arg249Leu | |
| ENST00000644472.1:c.*751G>T | ENSP00000495378.1:n.*751G>T | |
| ENST00000644484.1:c.*599G>T | ENSP00000493558.1:n.*599G>T | |
| ENST00000644542.1:c.*2095G>T | ENSP00000495532.1:n.*2095G>T | |
| ENST00000644675.1:c.*562G>T | ENSP00000494567.1:n.*562G>T | |
| ENST00000644757.1:c.*695G>T | ENSP00000495085.1:n.*695G>T | |
| ENST00000644772.1:c.2456G>T | ENSP00000494321.1:p.Arg819Leu | |
| ENST00000645076.1:c.1642G>T | ||
| ENST00000645744.1:c.*754G>T | ENSP00000494564.1:n.*754G>T | |
| ENST00000645760.1:c.2665G>T | ||
| ENST00000645884.1:c.2390G>T | ENSP00000495516.1:p.Arg797Leu | |
| ENST00000646003.1:c.*531G>T | ENSP00000495259.1:n.*531G>T | |
| ENST00000646207.1:c.*754G>T | ENSP00000495025.1:n.*754G>T | |
| ENST00000646276.1:c.*663G>T | ENSP00000496070.1:n.*663G>T | |
| ENST00000646592.1:c.1616G>T | ||
| ENST00000646902.1:c.2387G>T | ENSP00000494101.1:p.Arg796Leu | |
| ENST00000646993.1:c.*786G>T | ENSP00000493720.1:n.*786G>T | |
| ENST00000647013.1:c.2396G>T | ENSP00000496741.1:n.2396G>T | |
| ENST00000647015.1:c.2141G>T | ENSP00000495389.1:p.Arg714Leu | |
| ENST00000647086.1:c.*2120G>T | ENSP00000493677.1:n.*2120G>T | |
| ENST00000647158.1:c.*531G>T | ENSP00000495744.1:n.*531G>T | |
| ENST00000302539.8:c.2393G>T | ENSP00000303960.4:p.Arg798Leu | |
| ENST00000389817.7:c.2390G>T | ENSP00000374467.3:p.Arg797Leu | |
| ENST00000527905.5:c.2360G>T | ENSP00000431653.1:p.Arg787Leu | |
| ENST00000529967.5:n.59G>T | ||
| ENST00000531911.1:n.504G>T | ||
| NM_000352.4:c.2390G>T | NP_000343.2:p.Arg797Leu | |
| NM_001287174.1:c.2393G>T | NP_001274103.1:p.Arg798Leu | |
| XM_011520331.1:c.2390G>T | XP_011518633.1:p.Arg797Leu | |
| XM_011520332.1:c.2393G>T | XP_011518634.1:p.Arg798Leu | |
| XM_011520333.1:c.890G>T | XP_011518635.1:p.Arg297Leu | |
| XM_011520334.1:c.2393G>T | XP_011518636.1:p.Arg798Leu | |
| XR_930890.1:n.2456G>T | ||
| XR_930891.1:n.2456G>T | ||
| XR_930892.1:n.2456G>T | ||
| XR_930893.1:n.2453G>T | ||
| NM_001351295.1:c.2456G>T | NP_001338224.1:p.Arg819Leu | |
| NM_001351296.1:c.2390G>T | NP_001338225.1:p.Arg797Leu | |
| NM_001351297.1:c.2387G>T | NP_001338226.1:p.Arg796Leu | |
| NR_147094.1:n.2459G>T | ||
| XM_017018197.2:c.2459G>T | XP_016873686.1:p.Arg820Leu | |
| XM_017018199.1:c.2456G>T | XP_016873688.1:p.Arg819Leu | |
| XM_017018201.2:c.2459G>T | XP_016873690.1:p.Arg820Leu | |
| XM_017018202.1:c.956G>T | XP_016873691.1:p.Arg319Leu | |
| XM_017018204.1:c.347G>T | XP_016873693.1:p.Arg116Leu | |
| XM_024448668.1:c.758G>T | XP_024304436.1:p.Arg253Leu | |
| XR_001747945.2:n.2531G>T | ||
| XR_001747946.2:n.2462G>T | ||
| XR_002957189.1:n.2531G>T | ||
| NM_000352.6:c.2390G>T MANE Select | NP_000343.2:p.Arg797Leu | |
| NM_001287174.2:c.2393G>T | NP_001274103.1:p.Arg798Leu | |
| NM_001351295.2:c.2456G>T | NP_001338224.1:p.Arg819Leu | |
| NM_001351296.2:c.2390G>T | NP_001338225.1:p.Arg797Leu | |
| NM_001351297.2:c.2387G>T | NP_001338226.1:p.Arg796Leu | |
| NR_147094.2:n.2459G>T | ||
| NM_001287174.3:c.2393G>T | NP_001274103.1:p.Arg798Leu |