Revel Score:
ENST00000351030 (MANE Select)
0.220
ENST00000303890
0.220
ENST00000448249
0.220
ENST00000535026
0.220
ENST00000421776
0.220
ENST00000444119
0.220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128460629T>A , CM000671.2:g.128460629T>A | GRCh38 |
| NC_000009.11:g.131222908T>A , CM000671.1:g.131222908T>A | GRCh37 |
| NC_000009.10:g.130262729T>A | NCBI36 |
| NG_029568.1:g.10475T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372791.8:c.124-313T>A | ENSP00000361877.3:n.124-313T>A | |
| ENST00000351030.8:c.335T>A MANE Select | ENSP00000342581.4:p.Ile112Lys | |
| ENST00000372807.10:c.71T>A | ENSP00000361893.5:p.Ile24Lys | |
| ENST00000393527.8:c.335T>A | ENSP00000377161.6:p.Ile112Lys | |
| ENST00000444119.7:c.*24T>A | ENSP00000394506.3:n.*24T>A | |
| ENST00000448249.8:c.71T>A | ENSP00000396687.2:p.Ile24Lys | |
| ENST00000686232.1:c.601T>A | ||
| ENST00000688016.1:c.297T>A | ENSP00000510207.1:n.297T>A | |
| ENST00000351030.7:c.71T>A | ENSP00000342581.3:p.Ile24Lys | |
| ENST00000372791.7:c.124-313T>A | ENSP00000361877.3:n.124-313T>A | |
| ENST00000372807.9:c.71T>A | ENSP00000361893.5:p.Ile24Lys | |
| ENST00000372814.7:c.256-313T>A | ENSP00000361901.3:n.256-313T>A | |
| ENST00000393527.7:c.71T>A | ENSP00000377161.5:p.Ile24Lys | |
| ENST00000393533.6:c.124-313T>A | ENSP00000377166.2:n.124-313T>A | |
| ENST00000421776.6:c.124-313T>A | ENSP00000395489.2:n.124-313T>A | |
| ENST00000432065.6:c.124-313T>A | ENSP00000407852.1:n.124-313T>A | |
| ENST00000434106.7:c.124-313T>A | ENSP00000403453.2:n.124-313T>A | |
| ENST00000444119.6:c.71T>A | ENSP00000394506.2:p.Ile24Lys | |
| ENST00000444993.6:n.538T>A | ||
| ENST00000446274.5:c.124-313T>A | ENSP00000415290.1:n.124-313T>A | |
| ENST00000448249.7:c.71T>A | ENSP00000396687.2:p.Ile24Lys | |
| ENST00000469582.6:n.603T>A | ||
| ENST00000470061.5:c.124-313T>A | ENSP00000475118.1:n.124-313T>A | |
| ENST00000497812.6:c.97-313T>A | ENSP00000474949.1:n.97-313T>A | |
| ENST00000546203.5:c.124-313T>A | ENSP00000437579.1:n.124-313T>A | |
| ENST00000604420.5:c.124-313T>A | ENSP00000473949.2:n.124-313T>A | |
| NM_001242352.1:c.71T>A | NP_001229281.1:p.Ile24Lys | |
| NM_001242353.1:c.124-313T>A | NP_001229282.1:n.124-313T>A | |
| NM_001242354.1:c.71T>A | NP_001229283.1:p.Ile24Lys | |
| NM_002540.4:c.71T>A | NP_002531.3:p.Ile24Lys | |
| NM_153432.1:c.256-313T>A | NP_702910.1:n.256-313T>A | |
| NM_153433.1:c.124-313T>A | NP_702911.1:n.124-313T>A | |
| NM_153435.1:c.335T>A | NP_702913.1:p.Ile112Lys | |
| NM_153436.1:c.124-313T>A | NP_702914.1:n.124-313T>A | |
| NM_153437.2:c.124-313T>A | NP_702915.1:n.124-313T>A | |
| NM_153439.1:c.256-313T>A | NP_702917.1:n.256-313T>A | |
| NM_153440.1:c.124-313T>A | NP_702918.1:n.124-313T>A | |
| XM_005252010.1:c.256-313T>A | XP_005252067.1:n.256-313T>A | |
| XM_005252011.1:c.256-313T>A | XP_005252068.1:n.256-313T>A | |
| XM_005252012.2:c.124-313T>A | XP_005252069.1:n.124-313T>A | |
| XM_005252013.2:c.124-313T>A | XP_005252070.1:n.124-313T>A | |
| XM_005252014.2:c.124-313T>A | XP_005252071.1:n.124-313T>A | |
| XM_005252016.2:c.124-313T>A | XP_005252073.1:n.124-313T>A | |
| XM_005252017.3:c.71T>A | XP_005252074.1:p.Ile24Lys | |
| XM_005252018.1:c.71T>A | XP_005252075.1:p.Ile24Lys | |
| XM_005252019.2:c.71T>A | XP_005252076.1:p.Ile24Lys | |
| XM_005252020.2:c.71T>A | XP_005252077.1:p.Ile24Lys | |
| XM_005252022.1:c.124-313T>A | XP_005252079.1:n.124-313T>A | |
| XM_005252023.1:c.124-313T>A | XP_005252080.1:n.124-313T>A | |
| XM_005252024.2:c.124-313T>A | XP_005252081.1:n.124-313T>A | |
| XM_005252025.1:c.124-313T>A | XP_005252082.1:n.124-313T>A | |
| XM_005252026.3:c.71T>A | XP_005252083.1:p.Ile24Lys | |
| XM_005252027.2:c.71T>A | XP_005252084.1:p.Ile24Lys | |
| XM_005252028.1:c.71T>A | XP_005252085.1:p.Ile24Lys | |
| XM_005252029.1:c.124-313T>A | XP_005252086.1:n.124-313T>A | |
| XM_006717126.2:c.124-313T>A | XP_006717189.1:n.124-313T>A | |
| XM_011518722.1:c.335T>A | XP_011517024.1:p.Ile112Lys | |
| XM_011518723.1:c.335T>A | XP_011517025.1:p.Ile112Lys | |
| XM_011518724.1:c.203T>A | XP_011517026.1:p.Ile68Lys | |
| XM_011518725.1:c.203T>A | XP_011517027.1:p.Ile68Lys | |
| XM_011518726.1:c.203T>A | XP_011517028.1:p.Ile68Lys | |
| XM_011518727.1:c.203T>A | XP_011517029.1:p.Ile68Lys | |
| XM_011518728.1:c.203T>A | XP_011517030.1:p.Ile68Lys | |
| XM_011518729.1:c.203T>A | XP_011517031.1:p.Ile68Lys | |
| XM_011518730.1:c.335T>A | XP_011517032.1:p.Ile112Lys | |
| XM_011518731.1:c.335T>A | XP_011517033.1:p.Ile112Lys | |
| XM_011518732.1:c.203T>A | XP_011517034.1:p.Ile68Lys | |
| XM_011518733.1:c.335T>A | XP_011517035.1:p.Ile112Lys | |
| XM_011518734.1:c.255+972T>A | XP_011517036.1:n.255+972T>A | |
| XM_011518735.1:c.124-313T>A | XP_011517037.1:n.124-313T>A | |
| XM_011518736.1:c.71T>A | XP_011517038.1:p.Ile24Lys | |
| XM_011518737.1:c.124-313T>A | XP_011517039.1:n.124-313T>A | |
| XM_011518738.1:c.256-313T>A | XP_011517040.1:n.256-313T>A | |
| XM_011518739.1:c.123+972T>A | XP_011517041.1:n.123+972T>A | |
| XM_011518740.1:c.123+972T>A | XP_011517042.1:n.123+972T>A | |
| XM_011518741.1:c.124-313T>A | XP_011517043.1:n.124-313T>A | |
| XM_011518742.1:c.124-313T>A | XP_011517044.1:n.124-313T>A | |
| XM_011518743.1:c.71T>A | XP_011517045.1:p.Ile24Lys | |
| XM_011518744.1:c.256-313T>A | XP_011517046.1:n.256-313T>A | |
| NM_001351577.1:c.335T>A | NP_001338506.1:p.Ile112Lys | |
| NM_001351578.1:c.335T>A | NP_001338507.1:p.Ile112Lys | |
| NM_001351579.1:c.71T>A | NP_001338508.1:p.Ile24Lys | |
| NM_001351580.1:c.71T>A | NP_001338509.1:p.Ile24Lys | |
| NM_001351581.1:c.256-313T>A | NP_001338510.1:n.256-313T>A | |
| NM_001351582.1:c.203T>A | NP_001338511.1:p.Ile68Lys | |
| NM_001351583.1:c.71T>A | NP_001338512.1:p.Ile24Lys | |
| NM_001351584.1:c.71T>A | NP_001338513.1:p.Ile24Lys | |
| NM_001351585.1:c.71T>A | NP_001338514.1:p.Ile24Lys | |
| NM_001351586.1:c.71T>A | NP_001338515.1:p.Ile24Lys | |
| NM_001351587.1:c.71T>A | NP_001338516.1:p.Ile24Lys | |
| NM_001351588.1:c.71T>A | NP_001338517.1:p.Ile24Lys | |
| XM_005252011.2:c.256-313T>A | XP_005252068.1:n.256-313T>A | |
| XM_005252012.3:c.124-313T>A | XP_005252069.1:n.124-313T>A | |
| XM_005252013.3:c.124-313T>A | XP_005252070.1:n.124-313T>A | |
| XM_005252014.3:c.124-313T>A | XP_005252071.1:n.124-313T>A | |
| XM_005252019.3:c.71T>A | XP_005252076.1:p.Ile24Lys | |
| XM_005252022.2:c.124-313T>A | XP_005252079.1:n.124-313T>A | |
| XM_005252023.2:c.124-313T>A | XP_005252080.1:n.124-313T>A | |
| XM_005252024.3:c.124-313T>A | XP_005252081.1:n.124-313T>A | |
| XM_005252029.2:c.124-313T>A | XP_005252086.1:n.124-313T>A | |
| XM_006717126.3:c.124-313T>A | XP_006717189.1:n.124-313T>A | |
| XM_011518723.2:c.335T>A | XP_011517025.1:p.Ile112Lys | |
| XM_011518724.2:c.203T>A | XP_011517026.1:p.Ile68Lys | |
| XM_011518725.2:c.203T>A | XP_011517027.1:p.Ile68Lys | |
| XM_011518726.2:c.203T>A | XP_011517028.1:p.Ile68Lys | |
| XM_011518728.2:c.203T>A | XP_011517030.1:p.Ile68Lys | |
| XM_011518732.2:c.203T>A | XP_011517034.1:p.Ile68Lys | |
| XM_011518733.2:c.335T>A | XP_011517035.1:p.Ile112Lys | |
| XM_017014764.1:c.203T>A | XP_016870253.1:p.Ile68Lys | |
| XM_017014765.1:c.203T>A | XP_016870254.1:p.Ile68Lys | |
| XM_017014768.1:c.124-313T>A | XP_016870257.1:n.124-313T>A | |
| XM_017014769.1:c.124-313T>A | XP_016870258.1:n.124-313T>A | |
| XM_017014770.1:c.71T>A | XP_016870259.1:p.Ile24Lys | |
| XM_017014771.2:c.71T>A | XP_016870260.1:p.Ile24Lys | |
| XM_017014775.1:c.71T>A | XP_016870264.1:p.Ile24Lys | |
| XM_017014776.2:c.71T>A | XP_016870265.1:p.Ile24Lys | |
| XM_017014778.1:c.71T>A | XP_016870267.1:p.Ile24Lys | |
| XM_017014780.2:c.71T>A | XP_016870269.1:p.Ile24Lys | |
| XM_024447562.1:c.71T>A | XP_024303330.1:p.Ile24Lys | |
| XM_024447563.1:c.203T>A | XP_024303331.1:p.Ile68Lys | |
| XM_024447564.1:c.335T>A | XP_024303332.1:p.Ile112Lys | |
| XM_024447565.1:c.335T>A | XP_024303333.1:p.Ile112Lys | |
| XR_002956785.1:n.291-313T>A | ||
| XR_002956786.1:n.465-313T>A | ||
| XR_002956787.1:n.436-313T>A | ||
| XR_002956788.1:n.455-313T>A | ||
| NM_001242353.2:c.124-313T>A | NP_001229282.1:n.124-313T>A | |
| NM_001351579.2:c.71T>A | NP_001338508.1:p.Ile24Lys | |
| NM_001351580.2:c.71T>A | NP_001338509.1:p.Ile24Lys | |
| NM_001351582.2:c.203T>A | NP_001338511.1:p.Ile68Lys | |
| NM_001351583.2:c.71T>A | NP_001338512.1:p.Ile24Lys | |
| NM_001351584.2:c.71T>A | NP_001338513.1:p.Ile24Lys | |
| NM_001351585.2:c.71T>A | NP_001338514.1:p.Ile24Lys | |
| NM_001351586.2:c.71T>A | NP_001338515.1:p.Ile24Lys | |
| NM_001351587.2:c.71T>A | NP_001338516.1:p.Ile24Lys | |
| NM_001351588.2:c.71T>A | NP_001338517.1:p.Ile24Lys | |
| NM_002540.5:c.71T>A | NP_002531.3:p.Ile24Lys | |
| NM_153433.2:c.124-313T>A | NP_702911.1:n.124-313T>A | |
| NM_001242352.2:c.71T>A | NP_001229281.1:p.Ile24Lys | |
| NM_001242354.2:c.71T>A | NP_001229283.1:p.Ile24Lys | |
| NM_001351578.2:c.335T>A MANE Select | NP_001338507.1:p.Ile112Lys | |
| NM_153436.2:c.124-313T>A | NP_702914.1:n.124-313T>A | |
| NM_153437.3:c.124-313T>A | NP_702915.1:n.124-313T>A | |
| NM_153440.2:c.124-313T>A | NP_702918.1:n.124-313T>A |