Revel Score:
ENST00000219476 (MANE Select)
0.838
ENST00000401874
0.838
ENST00000353929
0.838
ENST00000439673
0.838
ENST00000382538
0.838
ENST00000350773
0.838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088285G>T , CM000678.2:g.2088285G>T | GRCh38 |
| NC_000016.9:g.2138286G>T , CM000678.1:g.2138286G>T | GRCh37 |
| NC_000016.8:g.2078287G>T | NCBI36 |
| NG_005895.1:g.43980G>T , LRG_487:g.43980G>T | |
| NG_008617.1:g.54936C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3568G>T | ENSP00000455997.2:n.*3568G>T | |
| ENST00000642206.2:c.5066G>T | ENSP00000495146.2:p.Trp1689Leu | |
| ENST00000642365.2:c.5216G>T | ENSP00000495459.2:p.Trp1739Leu | |
| ENST00000644417.2:c.*5732G>T | ENSP00000493912.2:n.*5732G>T | |
| ENST00000646464.2:c.*7968G>T | ENSP00000496610.2:n.*7968G>T | |
| ENST00000219476.9:c.5219G>T MANE Select | ENSP00000219476.3:p.Trp1740Leu | |
| ENST00000350773.9:c.5150G>T | ENSP00000344383.4:p.Trp1717Leu | |
| ENST00000401874.7:c.5018G>T | ENSP00000384468.2:p.Trp1673Leu | |
| ENST00000568454.6:c.5051G>T | ENSP00000454487.1:p.Trp1684Leu | |
| ENST00000569110.2:c.1442G>T | ||
| ENST00000569930.2:n.3101G>T | ||
| ENST00000642365.1:c.3873G>T | ||
| ENST00000642561.1:c.5078G>T | ENSP00000495099.1:p.Trp1693Leu | |
| ENST00000642791.1:n.816G>T | ||
| ENST00000642797.1:c.5021G>T | ENSP00000493846.1:p.Trp1674Leu | |
| ENST00000642936.1:c.5087G>T | ENSP00000494514.1:p.Trp1696Leu | |
| ENST00000643088.1:c.5012G>T | ENSP00000494747.1:p.Trp1671Leu | |
| ENST00000643426.1:n.2867G>T | ||
| ENST00000643946.1:c.5144G>T | ENSP00000495927.1:p.Trp1715Leu | |
| ENST00000644043.1:c.5090G>T | ENSP00000496262.1:p.Trp1697Leu | |
| ENST00000644329.1:c.5105G>T | ENSP00000496611.1:p.Trp1702Leu | |
| ENST00000644335.1:c.5015G>T | ENSP00000496317.1:p.Trp1672Leu | |
| ENST00000644399.1:c.5140G>T | ||
| ENST00000645024.1:n.3303G>T | ||
| ENST00000646388.1:c.5213G>T | ENSP00000495921.1:p.Trp1738Leu | |
| ENST00000646634.1:n.4034G>T | ||
| ENST00000646674.1:n.2471G>T | ||
| ENST00000647042.1:n.2442G>T | ||
| ENST00000647180.1:n.2332G>T | ||
| ENST00000219476.7:c.5219G>T | ENSP00000219476.3:p.Trp1740Leu | |
| ENST00000350773.8:c.5150G>T | ENSP00000344383.4:p.Trp1717Leu | |
| ENST00000382538.10:c.4874G>T | ENSP00000371978.6:p.Trp1625Leu | |
| ENST00000401874.6:c.5018G>T | ENSP00000384468.2:p.Trp1673Leu | |
| ENST00000439117.6:c.*4386G>T | ENSP00000406980.2:n.*4386G>T | |
| ENST00000439673.6:c.4910G>T | ENSP00000399232.2:p.Trp1637Leu | |
| ENST00000497886.5:n.2942G>T | ||
| ENST00000568454.5:c.5051G>T | ENSP00000454487.1:p.Trp1684Leu | |
| ENST00000569110.1:c.1401G>T | ||
| ENST00000569930.1:n.2334G>T | ||
| NM_000548.3:c.5219G>T , LRG_487t1:c.5219G>T | NP_000539.2:p.Trp1740Leu | |
| NM_001077183.1:c.5018G>T | NP_001070651.1:p.Trp1673Leu | |
| NM_001114382.1:c.5150G>T | NP_001107854.1:p.Trp1717Leu | |
| XM_005255529.3:c.5090G>T | XP_005255586.2:p.Trp1697Leu | |
| XM_005255531.3:c.5021G>T | XP_005255588.2:p.Trp1674Leu | |
| XM_011522636.1:c.5273G>T | XP_011520938.1:p.Trp1758Leu | |
| XM_011522637.1:c.5270G>T | XP_011520939.1:p.Trp1757Leu | |
| XM_011522638.1:c.5162G>T | XP_011520940.1:p.Trp1721Leu | |
| XM_011522639.1:c.5144G>T | XP_011520941.1:p.Trp1715Leu | |
| XM_011522640.1:c.5141G>T | XP_011520942.1:p.Trp1714Leu | |
| XM_011522641.1:c.4910G>T | XP_011520943.1:p.Trp1637Leu | |
| NM_000548.4:c.5219G>T | NP_000539.2:p.Trp1740Leu | |
| NM_001077183.2:c.5018G>T | NP_001070651.1:p.Trp1673Leu | |
| NM_001114382.2:c.5150G>T | NP_001107854.1:p.Trp1717Leu | |
| NM_001318827.1:c.4910G>T | NP_001305756.1:p.Trp1637Leu | |
| NM_001318829.1:c.4874G>T | NP_001305758.1:p.Trp1625Leu | |
| NM_001318831.1:c.4487G>T | NP_001305760.1:p.Trp1496Leu | |
| NM_001318832.1:c.5051G>T | NP_001305761.1:p.Trp1684Leu | |
| NM_001363528.1:c.5021G>T | NP_001350457.1:p.Trp1674Leu | |
| NM_021055.2:c.5090G>T | NP_066399.2:p.Trp1697Leu | |
| XM_005255531.4:c.5021G>T | XP_005255588.2:p.Trp1674Leu | |
| XM_011522636.2:c.5273G>T | XP_011520938.1:p.Trp1758Leu | |
| XM_011522637.2:c.5270G>T | XP_011520939.1:p.Trp1757Leu | |
| XM_011522638.2:c.5435G>T | XP_011520940.2:p.Trp1812Leu | |
| XM_011522639.2:c.5144G>T | XP_011520941.1:p.Trp1715Leu | |
| XM_011522640.2:c.5141G>T | XP_011520942.1:p.Trp1714Leu | |
| XM_017023615.1:c.5216G>T | XP_016879104.1:p.Trp1739Leu | |
| XM_017023616.1:c.5087G>T | XP_016879105.1:p.Trp1696Leu | |
| XM_017023617.1:c.5183G>T | XP_016879106.1:p.Trp1728Leu | |
| XM_017023618.1:c.3929G>T | XP_016879107.1:p.Trp1310Leu | |
| XM_024450413.1:c.5105G>T | XP_024306181.1:p.Trp1702Leu | |
| NM_000548.5:c.5219G>T MANE Select | NP_000539.2:p.Trp1740Leu | |
| NM_001370404.1:c.5087G>T | NP_001357333.1:p.Trp1696Leu | |
| NM_001370405.1:c.5078G>T | NP_001357334.1:p.Trp1693Leu | |
| NM_001077183.3:c.5018G>T | NP_001070651.1:p.Trp1673Leu | |
| NM_001114382.3:c.5150G>T | NP_001107854.1:p.Trp1717Leu | |
| NM_001318827.2:c.4910G>T | NP_001305756.1:p.Trp1637Leu | |
| NM_001318829.2:c.4874G>T | NP_001305758.1:p.Trp1625Leu | |
| NM_001318831.2:c.4487G>T | NP_001305760.1:p.Trp1496Leu | |
| NM_001318832.2:c.5051G>T | NP_001305761.1:p.Trp1684Leu | |
| NM_001363528.2:c.5021G>T | NP_001350457.1:p.Trp1674Leu | |
| NM_021055.3:c.5090G>T | NP_066399.2:p.Trp1697Leu |