Revel Score:
ENST00000342992
0.095
ENST00000460472
0.095
ENST00000342175
0.095
ENST00000359218
0.095
ENST00000356127
0.095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586616T>A , CM000664.2:g.178586616T>A | GRCh38 |
| NC_000002.11:g.179451343T>A , CM000664.1:g.179451343T>A | GRCh37 |
| NC_000002.10:g.179159589T>A | NCBI36 |
| NG_011618.3:g.249187A>T , LRG_391:g.249187A>T | |
| NG_051363.1:g.68790T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56581A>T (TTN) | ENSP00000343764.6:p.Thr18861Ser | |
| ENST00000342175.11:c.37666A>T (TTN) | ENSP00000340554.6:p.Thr12556Ser | |
| ENST00000359218.10:c.37465A>T (TTN) | ENSP00000352154.5:p.Thr12489Ser | |
| ENST00000342175.10:c.37666A>T (TTN) | ENSP00000340554.6:p.Thr12556Ser | |
| ENST00000342992.10:c.56581A>T (TTN) | ENSP00000343764.6:p.Thr18861Ser | |
| ENST00000359218.9:c.37465A>T (TTN) | ENSP00000352154.5:p.Thr12489Ser | |
| ENST00000460472.6:c.37090A>T (TTN) | ENSP00000434586.1:p.Thr12364Ser | |
| ENST00000589042.5:c.64285A>T (TTN) MANE Select | ENSP00000467141.1:p.Thr21429Ser | |
| ENST00000591111.5:c.59362A>T (TTN) | ENSP00000465570.1:p.Thr19788Ser | |
| ENST00000615779.4:c.59362A>T (TTN) | ENSP00000483597.1:p.Thr19788Ser | |
| NM_001256850.1:c.59362A>T (TTN) | NP_001243779.1:p.Thr19788Ser | |
| NM_001267550.2:c.64285A>T (TTN) MANE Select | NP_001254479.2:p.Thr21429Ser | |
| NM_003319.4:c.37090A>T (TTN) | NP_003310.4:p.Thr12364Ser | |
| NM_133378.4:c.56581A>T (TTN) | NP_596869.4:p.Thr18861Ser | |
| NM_133432.3:c.37465A>T (TTN) | NP_597676.3:p.Thr12489Ser | |
| NM_133437.4:c.37666A>T (TTN) | NP_597681.4:p.Thr12556Ser | |
| NR_038271.1:n.597-10980T>A (TTN-AS1) | ||
| NR_038272.1:n.3188+1623T>A (TTN-AS1) | ||
| XM_011511729.1:c.63382A>T (TTN) | XP_011510031.1:p.Thr21128Ser | |
| XM_011511730.1:c.37276A>T (TTN) | XP_011510032.1:p.Thr12426Ser | |
| XM_011511731.1:c.37135A>T (TTN) | XP_011510033.1:p.Thr12379Ser | |
| XM_017004819.1:c.63178A>T (TTN) | XP_016860308.1:p.Thr21060Ser | |
| XM_017004820.1:c.58576A>T (TTN) | XP_016860309.1:p.Thr19526Ser | |
| XM_017004821.1:c.58573A>T (TTN) | XP_016860310.1:p.Thr19525Ser | |
| XM_017004822.1:c.55615A>T (TTN) | XP_016860311.1:p.Thr18539Ser | |
| XM_017004823.1:c.37231A>T (TTN) | XP_016860312.1:p.Thr12411Ser | |
| XM_024453094.1:c.58726A>T (TTN) | XP_024308862.1:p.Thr19576Ser | |
| XM_024453095.1:c.58723A>T (TTN) | XP_024308863.1:p.Thr19575Ser | |
| XM_024453096.1:c.58156A>T (TTN) | XP_024308864.1:p.Thr19386Ser | |
| XM_024453097.1:c.55498A>T (TTN) | XP_024308865.1:p.Thr18500Ser | |
| XM_024453098.1:c.55417A>T (TTN) | XP_024308866.1:p.Thr18473Ser | |
| XM_024453099.1:c.37180A>T (TTN) | XP_024308867.1:p.Thr12394Ser | |
| XM_024453100.1:c.27034A>T (TTN) | XP_024308868.1:p.Thr9012Ser |