Revel Score:
ENST00000389817 (MANE Select)
0.963
ENST00000302539
0.963
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394295C>T , CM000673.2:g.17394295C>T | GRCh38 |
| NC_000011.9:g.17415842C>T , CM000673.1:g.17415842C>T | GRCh37 |
| NC_000011.8:g.17372418C>T | NCBI36 |
| NG_008867.1:g.87608G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4117G>A | ||
| ENST00000526037.6:n.451G>A | ||
| ENST00000528374.2:c.1107G>A | ||
| ENST00000529967.6:n.2855G>A | ||
| ENST00000532220.2:n.3749G>A | ||
| ENST00000642611.2:n.5849G>A | ||
| ENST00000644057.2:n.1092G>A | ||
| ENST00000645004.2:n.2015G>A | ||
| ENST00000682051.1:n.4678G>A | ||
| ENST00000682110.1:n.4731G>A | ||
| ENST00000682140.1:c.*302G>A | ENSP00000507829.1:n.*302G>A | |
| ENST00000682185.1:n.5821G>A | ||
| ENST00000682204.1:c.*2654G>A | ENSP00000507094.1:n.*2654G>A | |
| ENST00000682215.1:n.5098G>A | ||
| ENST00000682288.1:c.*2947G>A | ENSP00000507506.1:n.*2947G>A | |
| ENST00000682442.1:n.4951G>A | ||
| ENST00000682528.1:n.4808G>A | ||
| ENST00000682673.1:n.4675G>A | ||
| ENST00000682805.1:n.5136G>A | ||
| ENST00000682965.1:c.*938G>A | ENSP00000508229.1:n.*938G>A | |
| ENST00000683093.1:n.5711G>A | ||
| ENST00000683136.1:c.4399G>A | ENSP00000507768.1:p.Glu1467Lys | |
| ENST00000683153.1:n.4773G>A | ||
| ENST00000683365.1:n.4833G>A | ||
| ENST00000683377.1:n.4627G>A | ||
| ENST00000683456.1:c.*1653G>A | ENSP00000508318.1:n.*1653G>A | |
| ENST00000683522.1:n.4813G>A | ||
| ENST00000683562.1:c.*2581G>A | ENSP00000508265.1:n.*2581G>A | |
| ENST00000683693.1:n.6192G>A | ||
| ENST00000683725.1:c.4412G>A | ENSP00000507496.1:p.Arg1471Gln | |
| ENST00000684010.1:n.4726G>A | ||
| ENST00000684014.1:n.703G>A | ||
| ENST00000684157.1:n.5716G>A | ||
| ENST00000684253.1:n.4634G>A | ||
| ENST00000684288.1:c.*2688G>A | ENSP00000507143.1:n.*2688G>A | |
| ENST00000684313.1:n.4163G>A | ||
| ENST00000684332.1:n.4804G>A | ||
| ENST00000684371.1:n.4837G>A | ||
| ENST00000684404.1:n.5759G>A | ||
| ENST00000684442.1:n.4955G>A | ||
| ENST00000684555.1:c.*2728G>A | ENSP00000507705.1:n.*2728G>A | |
| ENST00000684571.1:c.4357G>A | ENSP00000506935.1:p.Glu1453Lys | |
| ENST00000684593.1:c.*4221G>A | ENSP00000507005.1:n.*4221G>A | |
| ENST00000684711.1:c.*2912G>A | ENSP00000506841.1:n.*2912G>A | |
| ENST00000302539.9:c.4519G>A | ENSP00000303960.4:p.Glu1507Lys | |
| ENST00000389817.8:c.4516G>A MANE Select | ENSP00000374467.4:p.Glu1506Lys | |
| ENST00000642271.1:c.4513G>A | ENSP00000493749.1:p.Glu1505Lys | |
| ENST00000642579.1:c.2570G>A | ||
| ENST00000642611.1:n.5734G>A | ||
| ENST00000642902.1:c.4298G>A | ||
| ENST00000643260.1:c.4516G>A | ENSP00000494450.1:p.Glu1506Lys | |
| ENST00000643562.1:c.*2638G>A | ENSP00000496124.1:n.*2638G>A | |
| ENST00000643925.1:c.3156G>A | ||
| ENST00000644057.1:n.675G>A | ||
| ENST00000644484.1:c.*3902G>A | ENSP00000493558.1:n.*3902G>A | |
| ENST00000644675.1:c.*2688G>A | ENSP00000494567.1:n.*2688G>A | |
| ENST00000644757.1:c.*3203-1315G>A | ENSP00000495085.1:n.*3203-1315G>A | |
| ENST00000644772.1:c.4582G>A | ENSP00000494321.1:p.Glu1528Lys | |
| ENST00000645004.1:n.2209G>A | ||
| ENST00000645076.1:c.3611G>A | ||
| ENST00000645417.1:c.1704G>A | ||
| ENST00000645744.1:c.*4201G>A | ENSP00000494564.1:n.*4201G>A | |
| ENST00000645760.1:c.4937G>A | ||
| ENST00000645884.1:c.*1799G>A | ENSP00000495516.1:n.*1799G>A | |
| ENST00000646003.1:c.*2538G>A | ENSP00000495259.1:n.*2538G>A | |
| ENST00000646207.1:c.*3353G>A | ENSP00000495025.1:n.*3353G>A | |
| ENST00000646276.1:c.*3920G>A | ENSP00000496070.1:n.*3920G>A | |
| ENST00000646592.1:c.3822G>A | ||
| ENST00000646902.1:c.4483G>A | ENSP00000494101.1:p.Glu1495Lys | |
| ENST00000646993.1:c.*2954G>A | ENSP00000493720.1:n.*2954G>A | |
| ENST00000647013.1:c.4522G>A | ENSP00000496741.1:n.4522G>A | |
| ENST00000647015.1:c.4267G>A | ENSP00000495389.1:p.Glu1423Lys | |
| ENST00000647086.1:c.*4102G>A | ENSP00000493677.1:n.*4102G>A | |
| ENST00000647158.1:c.*2803G>A | ENSP00000495744.1:n.*2803G>A | |
| ENST00000302539.8:c.4519G>A | ENSP00000303960.4:p.Glu1507Lys | |
| ENST00000389817.7:c.4516G>A | ENSP00000374467.3:p.Glu1506Lys | |
| ENST00000525022.1:n.411G>A | ||
| ENST00000526037.5:n.276G>A | ||
| ENST00000526168.5:c.304G>A | ||
| ENST00000531642.5:c.547G>A | ||
| NM_000352.4:c.4516G>A | NP_000343.2:p.Glu1506Lys | |
| NM_001287174.1:c.4519G>A | NP_001274103.1:p.Glu1507Lys | |
| XM_011520331.1:c.4516G>A | XP_011518633.1:p.Glu1506Lys | |
| XM_011520332.1:c.4415G>A | XP_011518634.1:p.Arg1472Gln | |
| XM_011520333.1:c.3016G>A | XP_011518635.1:p.Glu1006Lys | |
| XR_930890.1:n.4478G>A | ||
| NM_001351295.1:c.4582G>A | NP_001338224.1:p.Glu1528Lys | |
| NM_001351296.1:c.4516G>A | NP_001338225.1:p.Glu1506Lys | |
| NM_001351297.1:c.4513G>A | NP_001338226.1:p.Glu1505Lys | |
| NR_147094.1:n.4811G>A | ||
| XM_017018197.2:c.4585G>A | XP_016873686.1:p.Glu1529Lys | |
| XM_017018199.1:c.4582G>A | XP_016873688.1:p.Glu1528Lys | |
| XM_017018201.2:c.4481G>A | XP_016873690.1:p.Arg1494Gln | |
| XM_017018202.1:c.3082G>A | XP_016873691.1:p.Glu1028Lys | |
| XM_017018204.1:c.2473G>A | XP_016873693.1:p.Glu825Lys | |
| XM_024448668.1:c.2884G>A | XP_024304436.1:p.Glu962Lys | |
| XR_001747945.2:n.4553G>A | ||
| XR_001747946.2:n.4484G>A | ||
| XR_002957189.1:n.6267G>A | ||
| NM_000352.6:c.4516G>A MANE Select | NP_000343.2:p.Glu1506Lys | |
| NM_001287174.2:c.4519G>A | NP_001274103.1:p.Glu1507Lys | |
| NM_001351295.2:c.4582G>A | NP_001338224.1:p.Glu1528Lys | |
| NM_001351296.2:c.4516G>A | NP_001338225.1:p.Glu1506Lys | |
| NM_001351297.2:c.4513G>A | NP_001338226.1:p.Glu1505Lys | |
| NR_147094.2:n.4811G>A | ||
| NM_001287174.3:c.4519G>A | NP_001274103.1:p.Glu1507Lys |