Revel Score:
ENST00000219476 (MANE Select)
0.770
ENST00000401874
0.770
ENST00000353929
0.770
ENST00000439673
0.770
ENST00000382538
0.770
ENST00000350773
0.770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2087923T>C , CM000678.2:g.2087923T>C | GRCh38 |
| NC_000016.9:g.2137924T>C , CM000678.1:g.2137924T>C | GRCh37 |
| NC_000016.8:g.2077925T>C | NCBI36 |
| NG_005895.1:g.43618T>C , LRG_487:g.43618T>C | |
| NG_008617.1:g.55298A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3399T>C | ENSP00000455997.2:n.*3399T>C | |
| ENST00000642206.2:c.4897T>C | ENSP00000495146.2:p.Ser1633Pro | |
| ENST00000642365.2:c.5047T>C | ENSP00000495459.2:p.Ser1683Pro | |
| ENST00000644417.2:c.*5563T>C | ENSP00000493912.2:n.*5563T>C | |
| ENST00000646464.2:c.*7799T>C | ENSP00000496610.2:n.*7799T>C | |
| ENST00000219476.9:c.5050T>C MANE Select | ENSP00000219476.3:p.Ser1684Pro | |
| ENST00000350773.9:c.4981T>C | ENSP00000344383.4:p.Ser1661Pro | |
| ENST00000401874.7:c.4849T>C | ENSP00000384468.2:p.Ser1617Pro | |
| ENST00000568454.6:c.4882T>C | ENSP00000454487.1:p.Ser1628Pro | |
| ENST00000569110.2:c.1273T>C | ||
| ENST00000569930.2:n.2932T>C | ||
| ENST00000642365.1:c.3704T>C | ||
| ENST00000642561.1:c.4921T>C | ENSP00000495099.1:p.Ser1641Pro | |
| ENST00000642791.1:n.647T>C | ||
| ENST00000642797.1:c.4852T>C | ENSP00000493846.1:p.Ser1618Pro | |
| ENST00000642936.1:c.4918T>C | ENSP00000494514.1:p.Ser1640Pro | |
| ENST00000643088.1:c.4843T>C | ENSP00000494747.1:p.Ser1615Pro | |
| ENST00000643177.1:n.1064T>C | ||
| ENST00000643426.1:n.2698T>C | ||
| ENST00000643946.1:c.4975T>C | ENSP00000495927.1:p.Ser1659Pro | |
| ENST00000644043.1:c.4921T>C | ENSP00000496262.1:p.Ser1641Pro | |
| ENST00000644278.1:n.532T>C | ||
| ENST00000644329.1:c.4849T>C | ENSP00000496611.1:p.Ser1617Pro | |
| ENST00000644335.1:c.4846T>C | ENSP00000496317.1:p.Ser1616Pro | |
| ENST00000644399.1:c.4971T>C | ||
| ENST00000645024.1:n.3134T>C | ||
| ENST00000646388.1:c.5044T>C | ENSP00000495921.1:p.Ser1682Pro | |
| ENST00000646634.1:n.3865T>C | ||
| ENST00000646674.1:n.2302T>C | ||
| ENST00000647042.1:n.2273T>C | ||
| ENST00000647180.1:n.2163T>C | ||
| ENST00000219476.7:c.5050T>C | ENSP00000219476.3:p.Ser1684Pro | |
| ENST00000350773.8:c.4981T>C | ENSP00000344383.4:p.Ser1661Pro | |
| ENST00000382538.10:c.4705T>C | ENSP00000371978.6:p.Ser1569Pro | |
| ENST00000401874.6:c.4849T>C | ENSP00000384468.2:p.Ser1617Pro | |
| ENST00000439117.6:c.*4217T>C | ENSP00000406980.2:n.*4217T>C | |
| ENST00000439673.6:c.4741T>C | ENSP00000399232.2:p.Ser1581Pro | |
| ENST00000497886.5:n.2773T>C | ||
| ENST00000568454.5:c.4882T>C | ENSP00000454487.1:p.Ser1628Pro | |
| ENST00000569110.1:c.1232T>C | ||
| ENST00000569930.1:n.2165T>C | ||
| NM_000548.3:c.5050T>C , LRG_487t1:c.5050T>C | NP_000539.2:p.Ser1684Pro | |
| NM_001077183.1:c.4849T>C | NP_001070651.1:p.Ser1617Pro | |
| NM_001114382.1:c.4981T>C | NP_001107854.1:p.Ser1661Pro | |
| XM_005255529.3:c.4921T>C | XP_005255586.2:p.Ser1641Pro | |
| XM_005255531.3:c.4852T>C | XP_005255588.2:p.Ser1618Pro | |
| XM_011522636.1:c.5104T>C | XP_011520938.1:p.Ser1702Pro | |
| XM_011522637.1:c.5101T>C | XP_011520939.1:p.Ser1701Pro | |
| XM_011522638.1:c.4993T>C | XP_011520940.1:p.Ser1665Pro | |
| XM_011522639.1:c.4975T>C | XP_011520941.1:p.Ser1659Pro | |
| XM_011522640.1:c.4972T>C | XP_011520942.1:p.Ser1658Pro | |
| XM_011522641.1:c.4741T>C | XP_011520943.1:p.Ser1581Pro | |
| NM_000548.4:c.5050T>C | NP_000539.2:p.Ser1684Pro | |
| NM_001077183.2:c.4849T>C | NP_001070651.1:p.Ser1617Pro | |
| NM_001114382.2:c.4981T>C | NP_001107854.1:p.Ser1661Pro | |
| NM_001318827.1:c.4741T>C | NP_001305756.1:p.Ser1581Pro | |
| NM_001318829.1:c.4705T>C | NP_001305758.1:p.Ser1569Pro | |
| NM_001318831.1:c.4318T>C | NP_001305760.1:p.Ser1440Pro | |
| NM_001318832.1:c.4882T>C | NP_001305761.1:p.Ser1628Pro | |
| NM_001363528.1:c.4852T>C | NP_001350457.1:p.Ser1618Pro | |
| NM_021055.2:c.4921T>C | NP_066399.2:p.Ser1641Pro | |
| XM_005255531.4:c.4852T>C | XP_005255588.2:p.Ser1618Pro | |
| XM_011522636.2:c.5104T>C | XP_011520938.1:p.Ser1702Pro | |
| XM_011522637.2:c.5101T>C | XP_011520939.1:p.Ser1701Pro | |
| XM_011522638.2:c.5266T>C | XP_011520940.2:p.Ser1756Pro | |
| XM_011522639.2:c.4975T>C | XP_011520941.1:p.Ser1659Pro | |
| XM_011522640.2:c.4972T>C | XP_011520942.1:p.Ser1658Pro | |
| XM_017023615.1:c.5047T>C | XP_016879104.1:p.Ser1683Pro | |
| XM_017023616.1:c.4918T>C | XP_016879105.1:p.Ser1640Pro | |
| XM_017023617.1:c.5014T>C | XP_016879106.1:p.Ser1672Pro | |
| XM_017023618.1:c.3760T>C | XP_016879107.1:p.Ser1254Pro | |
| XM_024450413.1:c.4849T>C | XP_024306181.1:p.Ser1617Pro | |
| NM_000548.5:c.5050T>C MANE Select | NP_000539.2:p.Ser1684Pro | |
| NM_001370404.1:c.4918T>C | NP_001357333.1:p.Ser1640Pro | |
| NM_001370405.1:c.4921T>C | NP_001357334.1:p.Ser1641Pro | |
| NM_001077183.3:c.4849T>C | NP_001070651.1:p.Ser1617Pro | |
| NM_001114382.3:c.4981T>C | NP_001107854.1:p.Ser1661Pro | |
| NM_001318827.2:c.4741T>C | NP_001305756.1:p.Ser1581Pro | |
| NM_001318829.2:c.4705T>C | NP_001305758.1:p.Ser1569Pro | |
| NM_001318831.2:c.4318T>C | NP_001305760.1:p.Ser1440Pro | |
| NM_001318832.2:c.4882T>C | NP_001305761.1:p.Ser1628Pro | |
| NM_001363528.2:c.4852T>C | NP_001350457.1:p.Ser1618Pro | |
| NM_021055.3:c.4921T>C | NP_066399.2:p.Ser1641Pro |