Revel Score:
ENST00000342992
0.175
ENST00000460472
0.175
ENST00000342175
0.175
ENST00000359218
0.175
ENST00000356127
0.175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586616T>G , CM000664.2:g.178586616T>G | GRCh38 |
| NC_000002.11:g.179451343T>G , CM000664.1:g.179451343T>G | GRCh37 |
| NC_000002.10:g.179159589T>G | NCBI36 |
| NG_011618.3:g.249187A>C , LRG_391:g.249187A>C | |
| NG_051363.1:g.68790T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56581A>C (TTN) | ENSP00000343764.6:p.Thr18861Pro | |
| ENST00000342175.11:c.37666A>C (TTN) | ENSP00000340554.6:p.Thr12556Pro | |
| ENST00000359218.10:c.37465A>C (TTN) | ENSP00000352154.5:p.Thr12489Pro | |
| ENST00000342175.10:c.37666A>C (TTN) | ENSP00000340554.6:p.Thr12556Pro | |
| ENST00000342992.10:c.56581A>C (TTN) | ENSP00000343764.6:p.Thr18861Pro | |
| ENST00000359218.9:c.37465A>C (TTN) | ENSP00000352154.5:p.Thr12489Pro | |
| ENST00000460472.6:c.37090A>C (TTN) | ENSP00000434586.1:p.Thr12364Pro | |
| ENST00000589042.5:c.64285A>C (TTN) MANE Select | ENSP00000467141.1:p.Thr21429Pro | |
| ENST00000591111.5:c.59362A>C (TTN) | ENSP00000465570.1:p.Thr19788Pro | |
| ENST00000615779.4:c.59362A>C (TTN) | ENSP00000483597.1:p.Thr19788Pro | |
| NM_001256850.1:c.59362A>C (TTN) | NP_001243779.1:p.Thr19788Pro | |
| NM_001267550.2:c.64285A>C (TTN) MANE Select | NP_001254479.2:p.Thr21429Pro | |
| NM_003319.4:c.37090A>C (TTN) | NP_003310.4:p.Thr12364Pro | |
| NM_133378.4:c.56581A>C (TTN) | NP_596869.4:p.Thr18861Pro | |
| NM_133432.3:c.37465A>C (TTN) | NP_597676.3:p.Thr12489Pro | |
| NM_133437.4:c.37666A>C (TTN) | NP_597681.4:p.Thr12556Pro | |
| NR_038271.1:n.597-10980T>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1623T>G (TTN-AS1) | ||
| XM_011511729.1:c.63382A>C (TTN) | XP_011510031.1:p.Thr21128Pro | |
| XM_011511730.1:c.37276A>C (TTN) | XP_011510032.1:p.Thr12426Pro | |
| XM_011511731.1:c.37135A>C (TTN) | XP_011510033.1:p.Thr12379Pro | |
| XM_017004819.1:c.63178A>C (TTN) | XP_016860308.1:p.Thr21060Pro | |
| XM_017004820.1:c.58576A>C (TTN) | XP_016860309.1:p.Thr19526Pro | |
| XM_017004821.1:c.58573A>C (TTN) | XP_016860310.1:p.Thr19525Pro | |
| XM_017004822.1:c.55615A>C (TTN) | XP_016860311.1:p.Thr18539Pro | |
| XM_017004823.1:c.37231A>C (TTN) | XP_016860312.1:p.Thr12411Pro | |
| XM_024453094.1:c.58726A>C (TTN) | XP_024308862.1:p.Thr19576Pro | |
| XM_024453095.1:c.58723A>C (TTN) | XP_024308863.1:p.Thr19575Pro | |
| XM_024453096.1:c.58156A>C (TTN) | XP_024308864.1:p.Thr19386Pro | |
| XM_024453097.1:c.55498A>C (TTN) | XP_024308865.1:p.Thr18500Pro | |
| XM_024453098.1:c.55417A>C (TTN) | XP_024308866.1:p.Thr18473Pro | |
| XM_024453099.1:c.37180A>C (TTN) | XP_024308867.1:p.Thr12394Pro | |
| XM_024453100.1:c.27034A>C (TTN) | XP_024308868.1:p.Thr9012Pro |