Revel Score:
ENST00000219476 (MANE Select)
0.907
ENST00000401874
0.907
ENST00000353929
0.907
ENST00000439673
0.907
ENST00000382538
0.907
ENST00000350773
0.907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086818G>C , CM000678.2:g.2086818G>C | GRCh38 |
| NC_000016.9:g.2136819G>C , CM000678.1:g.2136819G>C | GRCh37 |
| NC_000016.8:g.2076820G>C | NCBI36 |
| NG_005895.1:g.42513G>C , LRG_487:g.42513G>C | |
| NG_008617.1:g.56403C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3285G>C | ENSP00000455997.2:n.*3285G>C | |
| ENST00000642206.2:c.4783G>C | ENSP00000495146.2:p.Val1595Leu | |
| ENST00000642365.2:c.4933G>C | ENSP00000495459.2:p.Val1645Leu | |
| ENST00000644417.2:c.*5449G>C | ENSP00000493912.2:n.*5449G>C | |
| ENST00000646464.2:c.*7685G>C | ENSP00000496610.2:n.*7685G>C | |
| ENST00000219476.9:c.4936G>C MANE Select | ENSP00000219476.3:p.Val1646Leu | |
| ENST00000350773.9:c.4867G>C | ENSP00000344383.4:p.Val1623Leu | |
| ENST00000401874.7:c.4735G>C | ENSP00000384468.2:p.Val1579Leu | |
| ENST00000568454.6:c.4768G>C | ENSP00000454487.1:p.Val1590Leu | |
| ENST00000569110.2:c.1159G>C | ||
| ENST00000569930.2:n.2818G>C | ||
| ENST00000642365.1:c.3590G>C | ||
| ENST00000642561.1:c.4807G>C | ENSP00000495099.1:p.Val1603Leu | |
| ENST00000642728.1:n.1118G>C | ||
| ENST00000642791.1:n.533G>C | ||
| ENST00000642797.1:c.4738G>C | ENSP00000493846.1:p.Val1580Leu | |
| ENST00000642936.1:c.4804G>C | ENSP00000494514.1:p.Val1602Leu | |
| ENST00000643088.1:c.4729G>C | ENSP00000494747.1:p.Val1577Leu | |
| ENST00000643177.1:n.950G>C | ||
| ENST00000643426.1:n.2584G>C | ||
| ENST00000643946.1:c.4861G>C | ENSP00000495927.1:p.Val1621Leu | |
| ENST00000644043.1:c.4807G>C | ENSP00000496262.1:p.Val1603Leu | |
| ENST00000644278.1:n.418G>C | ||
| ENST00000644329.1:c.4735G>C | ENSP00000496611.1:p.Val1579Leu | |
| ENST00000644335.1:c.4732G>C | ENSP00000496317.1:p.Val1578Leu | |
| ENST00000644399.1:c.4857G>C | ||
| ENST00000645024.1:n.3020G>C | ||
| ENST00000646388.1:c.4930G>C | ENSP00000495921.1:p.Val1644Leu | |
| ENST00000646557.1:n.97G>C | ||
| ENST00000646634.1:n.3751G>C | ||
| ENST00000646674.1:n.2188G>C | ||
| ENST00000647042.1:n.2159G>C | ||
| ENST00000647180.1:n.2049G>C | ||
| ENST00000219476.7:c.4936G>C | ENSP00000219476.3:p.Val1646Leu | |
| ENST00000350773.8:c.4867G>C | ENSP00000344383.4:p.Val1623Leu | |
| ENST00000382538.10:c.4591G>C | ENSP00000371978.6:p.Val1531Leu | |
| ENST00000401874.6:c.4735G>C | ENSP00000384468.2:p.Val1579Leu | |
| ENST00000439117.6:c.*4103G>C | ENSP00000406980.2:n.*4103G>C | |
| ENST00000439673.6:c.4627G>C | ENSP00000399232.2:p.Val1543Leu | |
| ENST00000497886.5:n.2659G>C | ||
| ENST00000568454.5:c.4768G>C | ENSP00000454487.1:p.Val1590Leu | |
| ENST00000569110.1:c.1118G>C | ||
| ENST00000569930.1:n.2051G>C | ||
| NM_000548.3:c.4936G>C , LRG_487t1:c.4936G>C | NP_000539.2:p.Val1646Leu | |
| NM_001077183.1:c.4735G>C | NP_001070651.1:p.Val1579Leu | |
| NM_001114382.1:c.4867G>C | NP_001107854.1:p.Val1623Leu | |
| XM_005255529.3:c.4807G>C | XP_005255586.2:p.Val1603Leu | |
| XM_005255531.3:c.4738G>C | XP_005255588.2:p.Val1580Leu | |
| XM_011522636.1:c.4990G>C | XP_011520938.1:p.Val1664Leu | |
| XM_011522637.1:c.4987G>C | XP_011520939.1:p.Val1663Leu | |
| XM_011522638.1:c.4879G>C | XP_011520940.1:p.Val1627Leu | |
| XM_011522639.1:c.4861G>C | XP_011520941.1:p.Val1621Leu | |
| XM_011522640.1:c.4858G>C | XP_011520942.1:p.Val1620Leu | |
| XM_011522641.1:c.4627G>C | XP_011520943.1:p.Val1543Leu | |
| NM_000548.4:c.4936G>C | NP_000539.2:p.Val1646Leu | |
| NM_001077183.2:c.4735G>C | NP_001070651.1:p.Val1579Leu | |
| NM_001114382.2:c.4867G>C | NP_001107854.1:p.Val1623Leu | |
| NM_001318827.1:c.4627G>C | NP_001305756.1:p.Val1543Leu | |
| NM_001318829.1:c.4591G>C | NP_001305758.1:p.Val1531Leu | |
| NM_001318831.1:c.4204G>C | NP_001305760.1:p.Val1402Leu | |
| NM_001318832.1:c.4768G>C | NP_001305761.1:p.Val1590Leu | |
| NM_001363528.1:c.4738G>C | NP_001350457.1:p.Val1580Leu | |
| NM_021055.2:c.4807G>C | NP_066399.2:p.Val1603Leu | |
| XM_005255531.4:c.4738G>C | XP_005255588.2:p.Val1580Leu | |
| XM_011522636.2:c.4990G>C | XP_011520938.1:p.Val1664Leu | |
| XM_011522637.2:c.4987G>C | XP_011520939.1:p.Val1663Leu | |
| XM_011522638.2:c.5152G>C | XP_011520940.2:p.Val1718Leu | |
| XM_011522639.2:c.4861G>C | XP_011520941.1:p.Val1621Leu | |
| XM_011522640.2:c.4858G>C | XP_011520942.1:p.Val1620Leu | |
| XM_017023615.1:c.4933G>C | XP_016879104.1:p.Val1645Leu | |
| XM_017023616.1:c.4804G>C | XP_016879105.1:p.Val1602Leu | |
| XM_017023617.1:c.4900G>C | XP_016879106.1:p.Val1634Leu | |
| XM_017023618.1:c.3646G>C | XP_016879107.1:p.Val1216Leu | |
| XM_024450413.1:c.4735G>C | XP_024306181.1:p.Val1579Leu | |
| NM_000548.5:c.4936G>C MANE Select | NP_000539.2:p.Val1646Leu | |
| NM_001370404.1:c.4804G>C | NP_001357333.1:p.Val1602Leu | |
| NM_001370405.1:c.4807G>C | NP_001357334.1:p.Val1603Leu | |
| NM_001077183.3:c.4735G>C | NP_001070651.1:p.Val1579Leu | |
| NM_001114382.3:c.4867G>C | NP_001107854.1:p.Val1623Leu | |
| NM_001318827.2:c.4627G>C | NP_001305756.1:p.Val1543Leu | |
| NM_001318829.2:c.4591G>C | NP_001305758.1:p.Val1531Leu | |
| NM_001318831.2:c.4204G>C | NP_001305760.1:p.Val1402Leu | |
| NM_001318832.2:c.4768G>C | NP_001305761.1:p.Val1590Leu | |
| NM_001363528.2:c.4738G>C | NP_001350457.1:p.Val1580Leu | |
| NM_021055.3:c.4807G>C | NP_066399.2:p.Val1603Leu |