Revel Score:
ENST00000342992
0.165
ENST00000460472
0.165
ENST00000342175
0.165
ENST00000359218
0.165
ENST00000356127
0.165
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614743T>G , CM000664.2:g.178614743T>G | GRCh38 |
| NC_000002.11:g.179479470T>G , CM000664.1:g.179479470T>G | GRCh37 |
| NC_000002.10:g.179187715T>G | NCBI36 |
| NG_011618.3:g.221060A>C , LRG_391:g.221060A>C | |
| NG_051363.1:g.96917T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41067A>C (TTN) | ENSP00000343764.6:p.Glu13689Asp | |
| ENST00000342175.11:c.22152A>C (TTN) | ENSP00000340554.6:p.Glu7384Asp | |
| ENST00000359218.10:c.21951A>C (TTN) | ENSP00000352154.5:p.Glu7317Asp | |
| ENST00000342175.10:c.22152A>C (TTN) | ENSP00000340554.6:p.Glu7384Asp | |
| ENST00000342992.10:c.41067A>C (TTN) | ENSP00000343764.6:p.Glu13689Asp | |
| ENST00000359218.9:c.21951A>C (TTN) | ENSP00000352154.5:p.Glu7317Asp | |
| ENST00000460472.6:c.21576A>C (TTN) | ENSP00000434586.1:p.Glu7192Asp | |
| ENST00000589042.5:c.48771A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu16257Asp | |
| ENST00000591111.5:c.43848A>C (TTN) | ENSP00000465570.1:p.Glu14616Asp | |
| ENST00000615779.4:c.43848A>C (TTN) | ENSP00000483597.1:p.Glu14616Asp | |
| NM_001256850.1:c.43848A>C (TTN) | NP_001243779.1:p.Glu14616Asp | |
| NM_001267550.2:c.48771A>C (TTN) MANE Select | NP_001254479.2:p.Glu16257Asp | |
| NM_003319.4:c.21576A>C (TTN) | NP_003310.4:p.Glu7192Asp | |
| NM_133378.4:c.41067A>C (TTN) | NP_596869.4:p.Glu13689Asp | |
| NM_133432.3:c.21951A>C (TTN) | NP_597676.3:p.Glu7317Asp | |
| NM_133437.4:c.22152A>C (TTN) | NP_597681.4:p.Glu7384Asp | |
| NR_038271.1:n.1491T>G (TTN-AS1) | ||
| XM_011511729.1:c.47868A>C (TTN) | XP_011510031.1:p.Glu15956Asp | |
| XM_011511730.1:c.21762A>C (TTN) | XP_011510032.1:p.Glu7254Asp | |
| XM_011511731.1:c.21621A>C (TTN) | XP_011510033.1:p.Glu7207Asp | |
| XM_017004819.1:c.47664A>C (TTN) | XP_016860308.1:p.Glu15888Asp | |
| XM_017004820.1:c.43062A>C (TTN) | XP_016860309.1:p.Glu14354Asp | |
| XM_017004821.1:c.43059A>C (TTN) | XP_016860310.1:p.Glu14353Asp | |
| XM_017004822.1:c.40101A>C (TTN) | XP_016860311.1:p.Glu13367Asp | |
| XM_017004823.1:c.21717A>C (TTN) | XP_016860312.1:p.Glu7239Asp | |
| XM_024453094.1:c.43212A>C (TTN) | XP_024308862.1:p.Glu14404Asp | |
| XM_024453095.1:c.43209A>C (TTN) | XP_024308863.1:p.Glu14403Asp | |
| XM_024453096.1:c.42642A>C (TTN) | XP_024308864.1:p.Glu14214Asp | |
| XM_024453097.1:c.39984A>C (TTN) | XP_024308865.1:p.Glu13328Asp | |
| XM_024453098.1:c.39903A>C (TTN) | XP_024308866.1:p.Glu13301Asp | |
| XM_024453099.1:c.21666A>C (TTN) | XP_024308867.1:p.Glu7222Asp | |
| XM_024453100.1:c.11520A>C (TTN) | XP_024308868.1:p.Glu3840Asp |