Revel Score:
ENST00000342992
0.287
ENST00000460472
0.287
ENST00000342175
0.287
ENST00000359218
0.287
ENST00000356127
0.287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614550T>G , CM000664.2:g.178614550T>G | GRCh38 |
| NC_000002.11:g.179479277T>G , CM000664.1:g.179479277T>G | GRCh37 |
| NC_000002.10:g.179187522T>G | NCBI36 |
| NG_011618.3:g.221253A>C , LRG_391:g.221253A>C | |
| NG_051363.1:g.96724T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41260A>C (TTN) | ENSP00000343764.6:p.Lys13754Gln | |
| ENST00000342175.11:c.22345A>C (TTN) | ENSP00000340554.6:p.Lys7449Gln | |
| ENST00000359218.10:c.22144A>C (TTN) | ENSP00000352154.5:p.Lys7382Gln | |
| ENST00000342175.10:c.22345A>C (TTN) | ENSP00000340554.6:p.Lys7449Gln | |
| ENST00000342992.10:c.41260A>C (TTN) | ENSP00000343764.6:p.Lys13754Gln | |
| ENST00000359218.9:c.22144A>C (TTN) | ENSP00000352154.5:p.Lys7382Gln | |
| ENST00000460472.6:c.21769A>C (TTN) | ENSP00000434586.1:p.Lys7257Gln | |
| ENST00000589042.5:c.48964A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys16322Gln | |
| ENST00000591111.5:c.44041A>C (TTN) | ENSP00000465570.1:p.Lys14681Gln | |
| ENST00000615779.4:c.44041A>C (TTN) | ENSP00000483597.1:p.Lys14681Gln | |
| NM_001256850.1:c.44041A>C (TTN) | NP_001243779.1:p.Lys14681Gln | |
| NM_001267550.2:c.48964A>C (TTN) MANE Select | NP_001254479.2:p.Lys16322Gln | |
| NM_003319.4:c.21769A>C (TTN) | NP_003310.4:p.Lys7257Gln | |
| NM_133378.4:c.41260A>C (TTN) | NP_596869.4:p.Lys13754Gln | |
| NM_133432.3:c.22144A>C (TTN) | NP_597676.3:p.Lys7382Gln | |
| NM_133437.4:c.22345A>C (TTN) | NP_597681.4:p.Lys7449Gln | |
| NR_038271.1:n.1298T>G (TTN-AS1) | ||
| XM_011511729.1:c.48061A>C (TTN) | XP_011510031.1:p.Lys16021Gln | |
| XM_011511730.1:c.21955A>C (TTN) | XP_011510032.1:p.Lys7319Gln | |
| XM_011511731.1:c.21814A>C (TTN) | XP_011510033.1:p.Lys7272Gln | |
| XM_017004819.1:c.47857A>C (TTN) | XP_016860308.1:p.Lys15953Gln | |
| XM_017004820.1:c.43255A>C (TTN) | XP_016860309.1:p.Lys14419Gln | |
| XM_017004821.1:c.43252A>C (TTN) | XP_016860310.1:p.Lys14418Gln | |
| XM_017004822.1:c.40294A>C (TTN) | XP_016860311.1:p.Lys13432Gln | |
| XM_017004823.1:c.21910A>C (TTN) | XP_016860312.1:p.Lys7304Gln | |
| XM_024453094.1:c.43405A>C (TTN) | XP_024308862.1:p.Lys14469Gln | |
| XM_024453095.1:c.43402A>C (TTN) | XP_024308863.1:p.Lys14468Gln | |
| XM_024453096.1:c.42835A>C (TTN) | XP_024308864.1:p.Lys14279Gln | |
| XM_024453097.1:c.40177A>C (TTN) | XP_024308865.1:p.Lys13393Gln | |
| XM_024453098.1:c.40096A>C (TTN) | XP_024308866.1:p.Lys13366Gln | |
| XM_024453099.1:c.21859A>C (TTN) | XP_024308867.1:p.Lys7287Gln | |
| XM_024453100.1:c.11713A>C (TTN) | XP_024308868.1:p.Lys3905Gln |