Revel Score:
ENST00000389817 (MANE Select)
0.779
ENST00000302539
0.779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404524C>G , CM000673.2:g.17404524C>G | GRCh38 |
| NC_000011.9:g.17426071C>G , CM000673.1:g.17426071C>G | GRCh37 |
| NC_000011.8:g.17382647C>G | NCBI36 |
| NG_008867.1:g.77379G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3114G>C | ||
| ENST00000528374.2:c.124G>C | ||
| ENST00000529967.6:n.1884G>C | ||
| ENST00000532220.2:n.1277G>C | ||
| ENST00000642611.2:n.3614G>C | ||
| ENST00000645004.2:n.1044G>C | ||
| ENST00000682051.1:n.3561G>C | ||
| ENST00000682110.1:n.3614G>C | ||
| ENST00000682140.1:c.3542G>C | ENSP00000507829.1:p.Arg1181Pro | |
| ENST00000682185.1:n.4850G>C | ||
| ENST00000682204.1:c.*1683G>C | ENSP00000507094.1:n.*1683G>C | |
| ENST00000682215.1:n.3611G>C | ||
| ENST00000682288.1:c.*1976G>C | ENSP00000507506.1:n.*1976G>C | |
| ENST00000682442.1:n.3834G>C | ||
| ENST00000682528.1:n.3691G>C | ||
| ENST00000682673.1:n.3558G>C | ||
| ENST00000682805.1:n.3611G>C | ||
| ENST00000682965.1:c.3396+970G>C | ENSP00000508229.1:n.3396+970G>C | |
| ENST00000683093.1:n.3713G>C | ||
| ENST00000683136.1:c.3542G>C | ENSP00000507768.1:p.Arg1181Pro | |
| ENST00000683153.1:n.3770G>C | ||
| ENST00000683365.1:n.3716G>C | ||
| ENST00000683377.1:n.3614G>C | ||
| ENST00000683456.1:c.*682G>C | ENSP00000508318.1:n.*682G>C | |
| ENST00000683522.1:n.3614G>C | ||
| ENST00000683562.1:c.*1714G>C | ENSP00000508265.1:n.*1714G>C | |
| ENST00000683693.1:n.3691G>C | ||
| ENST00000683725.1:c.3545G>C | ENSP00000507496.1:p.Arg1182Pro | |
| ENST00000684010.1:n.3609G>C | ||
| ENST00000684157.1:n.3614G>C | ||
| ENST00000684253.1:n.3517G>C | ||
| ENST00000684288.1:c.*1717G>C | ENSP00000507143.1:n.*1717G>C | |
| ENST00000684313.1:n.3046G>C | ||
| ENST00000684332.1:n.3687G>C | ||
| ENST00000684371.1:n.3720G>C | ||
| ENST00000684404.1:n.3657G>C | ||
| ENST00000684442.1:n.3614G>C | ||
| ENST00000684555.1:c.*1757G>C | ENSP00000507705.1:n.*1757G>C | |
| ENST00000684571.1:c.3386G>C | ENSP00000506935.1:p.Arg1129Pro | |
| ENST00000684593.1:c.*3250G>C | ENSP00000507005.1:n.*3250G>C | |
| ENST00000684711.1:c.*1941G>C | ENSP00000506841.1:n.*1941G>C | |
| ENST00000302539.9:c.3548G>C | ENSP00000303960.4:p.Arg1183Pro | |
| ENST00000389817.8:c.3545G>C MANE Select | ENSP00000374467.4:p.Arg1182Pro | |
| ENST00000642271.1:c.3542G>C | ENSP00000493749.1:p.Arg1181Pro | |
| ENST00000642579.1:c.1629G>C | ||
| ENST00000642611.1:n.3499G>C | ||
| ENST00000642902.1:c.3327G>C | ||
| ENST00000643260.1:c.3545G>C | ENSP00000494450.1:p.Arg1182Pro | |
| ENST00000643562.1:c.*1521G>C | ENSP00000496124.1:n.*1521G>C | |
| ENST00000643925.1:c.1669G>C | ||
| ENST00000644447.1:c.1901G>C | ENSP00000496282.1:p.Arg634Pro | |
| ENST00000644484.1:c.*1800G>C | ENSP00000493558.1:n.*1800G>C | |
| ENST00000644675.1:c.*1717G>C | ENSP00000494567.1:n.*1717G>C | |
| ENST00000644757.1:c.*1830G>C | ENSP00000495085.1:n.*1830G>C | |
| ENST00000644772.1:c.3611G>C | ENSP00000494321.1:p.Arg1204Pro | |
| ENST00000645004.1:n.684G>C | ||
| ENST00000645076.1:c.2744G>C | ||
| ENST00000645417.1:c.711G>C | ||
| ENST00000645744.1:c.*1809G>C | ENSP00000494564.1:n.*1809G>C | |
| ENST00000645760.1:c.3820G>C | ||
| ENST00000645884.1:c.*682G>C | ENSP00000495516.1:n.*682G>C | |
| ENST00000646003.1:c.*1501G>C | ENSP00000495259.1:n.*1501G>C | |
| ENST00000646207.1:c.*2012G>C | ENSP00000495025.1:n.*2012G>C | |
| ENST00000646276.1:c.*1818G>C | ENSP00000496070.1:n.*1818G>C | |
| ENST00000646592.1:c.2851G>C | ||
| ENST00000646902.1:c.3542G>C | ENSP00000494101.1:p.Arg1181Pro | |
| ENST00000646993.1:c.*1941G>C | ENSP00000493720.1:n.*1941G>C | |
| ENST00000647013.1:c.3551G>C | ENSP00000496741.1:n.3551G>C | |
| ENST00000647015.1:c.3296G>C | ENSP00000495389.1:p.Arg1099Pro | |
| ENST00000647086.1:c.*3275G>C | ENSP00000493677.1:n.*3275G>C | |
| ENST00000647158.1:c.*1686G>C | ENSP00000495744.1:n.*1686G>C | |
| ENST00000302539.8:c.3548G>C | ENSP00000303960.4:p.Arg1183Pro | |
| ENST00000389817.7:c.3545G>C | ENSP00000374467.3:p.Arg1182Pro | |
| ENST00000524561.1:n.677G>C | ||
| ENST00000527905.5:c.*421G>C | ENSP00000431653.1:n.*421G>C | |
| ENST00000528374.1:c.15G>C | ||
| ENST00000531137.1:n.38G>C | ||
| NM_000352.4:c.3545G>C | NP_000343.2:p.Arg1182Pro | |
| NM_001287174.1:c.3548G>C | NP_001274103.1:p.Arg1183Pro | |
| XM_011520331.1:c.3545G>C | XP_011518633.1:p.Arg1182Pro | |
| XM_011520332.1:c.3548G>C | XP_011518634.1:p.Arg1183Pro | |
| XM_011520333.1:c.2045G>C | XP_011518635.1:p.Arg682Pro | |
| XR_930890.1:n.3611G>C | ||
| XR_930892.1:n.3511G>C | ||
| XR_930893.1:n.3508G>C | ||
| NM_001351295.1:c.3611G>C | NP_001338224.1:p.Arg1204Pro | |
| NM_001351296.1:c.3545G>C | NP_001338225.1:p.Arg1182Pro | |
| NM_001351297.1:c.3542G>C | NP_001338226.1:p.Arg1181Pro | |
| NR_147094.1:n.3694G>C | ||
| XM_017018197.2:c.3614G>C | XP_016873686.1:p.Arg1205Pro | |
| XM_017018199.1:c.3611G>C | XP_016873688.1:p.Arg1204Pro | |
| XM_017018201.2:c.3614G>C | XP_016873690.1:p.Arg1205Pro | |
| XM_017018202.1:c.2111G>C | XP_016873691.1:p.Arg704Pro | |
| XM_017018204.1:c.1502G>C | XP_016873693.1:p.Arg501Pro | |
| XM_024448668.1:c.1913G>C | XP_024304436.1:p.Arg638Pro | |
| XR_001747945.2:n.3686G>C | ||
| XR_001747946.2:n.3617G>C | ||
| XR_002957189.1:n.3766G>C | ||
| NM_000352.6:c.3545G>C MANE Select | NP_000343.2:p.Arg1182Pro | |
| NM_001287174.2:c.3548G>C | NP_001274103.1:p.Arg1183Pro | |
| NM_001351295.2:c.3611G>C | NP_001338224.1:p.Arg1204Pro | |
| NM_001351296.2:c.3545G>C | NP_001338225.1:p.Arg1182Pro | |
| NM_001351297.2:c.3542G>C | NP_001338226.1:p.Arg1181Pro | |
| NR_147094.2:n.3694G>C | ||
| NM_001287174.3:c.3548G>C | NP_001274103.1:p.Arg1183Pro |