Revel Score:
ENST00000342992
0.408
ENST00000460472
0.408
ENST00000342175
0.408
ENST00000359218
0.408
ENST00000356127
0.408
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614546C>G , CM000664.2:g.178614546C>G | GRCh38 |
| NC_000002.11:g.179479273C>G , CM000664.1:g.179479273C>G | GRCh37 |
| NC_000002.10:g.179187518C>G | NCBI36 |
| NG_011618.3:g.221257G>C , LRG_391:g.221257G>C | |
| NG_051363.1:g.96720C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41264G>C (TTN) | ENSP00000343764.6:p.Arg13755Thr | |
| ENST00000342175.11:c.22349G>C (TTN) | ENSP00000340554.6:p.Arg7450Thr | |
| ENST00000359218.10:c.22148G>C (TTN) | ENSP00000352154.5:p.Arg7383Thr | |
| ENST00000342175.10:c.22349G>C (TTN) | ENSP00000340554.6:p.Arg7450Thr | |
| ENST00000342992.10:c.41264G>C (TTN) | ENSP00000343764.6:p.Arg13755Thr | |
| ENST00000359218.9:c.22148G>C (TTN) | ENSP00000352154.5:p.Arg7383Thr | |
| ENST00000460472.6:c.21773G>C (TTN) | ENSP00000434586.1:p.Arg7258Thr | |
| ENST00000589042.5:c.48968G>C (TTN) MANE Select | ENSP00000467141.1:p.Arg16323Thr | |
| ENST00000591111.5:c.44045G>C (TTN) | ENSP00000465570.1:p.Arg14682Thr | |
| ENST00000615779.4:c.44045G>C (TTN) | ENSP00000483597.1:p.Arg14682Thr | |
| NM_001256850.1:c.44045G>C (TTN) | NP_001243779.1:p.Arg14682Thr | |
| NM_001267550.2:c.48968G>C (TTN) MANE Select | NP_001254479.2:p.Arg16323Thr | |
| NM_003319.4:c.21773G>C (TTN) | NP_003310.4:p.Arg7258Thr | |
| NM_133378.4:c.41264G>C (TTN) | NP_596869.4:p.Arg13755Thr | |
| NM_133432.3:c.22148G>C (TTN) | NP_597676.3:p.Arg7383Thr | |
| NM_133437.4:c.22349G>C (TTN) | NP_597681.4:p.Arg7450Thr | |
| NR_038271.1:n.1294C>G (TTN-AS1) | ||
| XM_011511729.1:c.48065G>C (TTN) | XP_011510031.1:p.Arg16022Thr | |
| XM_011511730.1:c.21959G>C (TTN) | XP_011510032.1:p.Arg7320Thr | |
| XM_011511731.1:c.21818G>C (TTN) | XP_011510033.1:p.Arg7273Thr | |
| XM_017004819.1:c.47861G>C (TTN) | XP_016860308.1:p.Arg15954Thr | |
| XM_017004820.1:c.43259G>C (TTN) | XP_016860309.1:p.Arg14420Thr | |
| XM_017004821.1:c.43256G>C (TTN) | XP_016860310.1:p.Arg14419Thr | |
| XM_017004822.1:c.40298G>C (TTN) | XP_016860311.1:p.Arg13433Thr | |
| XM_017004823.1:c.21914G>C (TTN) | XP_016860312.1:p.Arg7305Thr | |
| XM_024453094.1:c.43409G>C (TTN) | XP_024308862.1:p.Arg14470Thr | |
| XM_024453095.1:c.43406G>C (TTN) | XP_024308863.1:p.Arg14469Thr | |
| XM_024453096.1:c.42839G>C (TTN) | XP_024308864.1:p.Arg14280Thr | |
| XM_024453097.1:c.40181G>C (TTN) | XP_024308865.1:p.Arg13394Thr | |
| XM_024453098.1:c.40100G>C (TTN) | XP_024308866.1:p.Arg13367Thr | |
| XM_024453099.1:c.21863G>C (TTN) | XP_024308867.1:p.Arg7288Thr | |
| XM_024453100.1:c.11717G>C (TTN) | XP_024308868.1:p.Arg3906Thr |