Revel Score:
ENST00000342992
0.508
ENST00000460472
0.508
ENST00000342175
0.508
ENST00000359218
0.508
ENST00000356127
0.508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614669A>G , CM000664.2:g.178614669A>G | GRCh38 |
| NC_000002.11:g.179479396A>G , CM000664.1:g.179479396A>G | GRCh37 |
| NC_000002.10:g.179187641A>G | NCBI36 |
| NG_011618.3:g.221134T>C , LRG_391:g.221134T>C | |
| NG_051363.1:g.96843A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41141T>C (TTN) | ENSP00000343764.6:p.Val13714Ala | |
| ENST00000342175.11:c.22226T>C (TTN) | ENSP00000340554.6:p.Val7409Ala | |
| ENST00000359218.10:c.22025T>C (TTN) | ENSP00000352154.5:p.Val7342Ala | |
| ENST00000342175.10:c.22226T>C (TTN) | ENSP00000340554.6:p.Val7409Ala | |
| ENST00000342992.10:c.41141T>C (TTN) | ENSP00000343764.6:p.Val13714Ala | |
| ENST00000359218.9:c.22025T>C (TTN) | ENSP00000352154.5:p.Val7342Ala | |
| ENST00000460472.6:c.21650T>C (TTN) | ENSP00000434586.1:p.Val7217Ala | |
| ENST00000589042.5:c.48845T>C (TTN) MANE Select | ENSP00000467141.1:p.Val16282Ala | |
| ENST00000591111.5:c.43922T>C (TTN) | ENSP00000465570.1:p.Val14641Ala | |
| ENST00000615779.4:c.43922T>C (TTN) | ENSP00000483597.1:p.Val14641Ala | |
| NM_001256850.1:c.43922T>C (TTN) | NP_001243779.1:p.Val14641Ala | |
| NM_001267550.2:c.48845T>C (TTN) MANE Select | NP_001254479.2:p.Val16282Ala | |
| NM_003319.4:c.21650T>C (TTN) | NP_003310.4:p.Val7217Ala | |
| NM_133378.4:c.41141T>C (TTN) | NP_596869.4:p.Val13714Ala | |
| NM_133432.3:c.22025T>C (TTN) | NP_597676.3:p.Val7342Ala | |
| NM_133437.4:c.22226T>C (TTN) | NP_597681.4:p.Val7409Ala | |
| NR_038271.1:n.1417A>G (TTN-AS1) | ||
| XM_011511729.1:c.47942T>C (TTN) | XP_011510031.1:p.Val15981Ala | |
| XM_011511730.1:c.21836T>C (TTN) | XP_011510032.1:p.Val7279Ala | |
| XM_011511731.1:c.21695T>C (TTN) | XP_011510033.1:p.Val7232Ala | |
| XM_017004819.1:c.47738T>C (TTN) | XP_016860308.1:p.Val15913Ala | |
| XM_017004820.1:c.43136T>C (TTN) | XP_016860309.1:p.Val14379Ala | |
| XM_017004821.1:c.43133T>C (TTN) | XP_016860310.1:p.Val14378Ala | |
| XM_017004822.1:c.40175T>C (TTN) | XP_016860311.1:p.Val13392Ala | |
| XM_017004823.1:c.21791T>C (TTN) | XP_016860312.1:p.Val7264Ala | |
| XM_024453094.1:c.43286T>C (TTN) | XP_024308862.1:p.Val14429Ala | |
| XM_024453095.1:c.43283T>C (TTN) | XP_024308863.1:p.Val14428Ala | |
| XM_024453096.1:c.42716T>C (TTN) | XP_024308864.1:p.Val14239Ala | |
| XM_024453097.1:c.40058T>C (TTN) | XP_024308865.1:p.Val13353Ala | |
| XM_024453098.1:c.39977T>C (TTN) | XP_024308866.1:p.Val13326Ala | |
| XM_024453099.1:c.21740T>C (TTN) | XP_024308867.1:p.Val7247Ala | |
| XM_024453100.1:c.11594T>C (TTN) | XP_024308868.1:p.Val3865Ala |