Revel Score:
ENST00000342992
0.269
ENST00000460472
0.269
ENST00000342175
0.269
ENST00000359218
0.269
ENST00000356127
0.269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614545T>G , CM000664.2:g.178614545T>G | GRCh38 |
| NC_000002.11:g.179479272T>G , CM000664.1:g.179479272T>G | GRCh37 |
| NC_000002.10:g.179187517T>G | NCBI36 |
| NG_011618.3:g.221258A>C , LRG_391:g.221258A>C | |
| NG_051363.1:g.96719T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41265A>C (TTN) | ENSP00000343764.6:p.Arg13755Ser | |
| ENST00000342175.11:c.22350A>C (TTN) | ENSP00000340554.6:p.Arg7450Ser | |
| ENST00000359218.10:c.22149A>C (TTN) | ENSP00000352154.5:p.Arg7383Ser | |
| ENST00000342175.10:c.22350A>C (TTN) | ENSP00000340554.6:p.Arg7450Ser | |
| ENST00000342992.10:c.41265A>C (TTN) | ENSP00000343764.6:p.Arg13755Ser | |
| ENST00000359218.9:c.22149A>C (TTN) | ENSP00000352154.5:p.Arg7383Ser | |
| ENST00000460472.6:c.21774A>C (TTN) | ENSP00000434586.1:p.Arg7258Ser | |
| ENST00000589042.5:c.48969A>C (TTN) MANE Select | ENSP00000467141.1:p.Arg16323Ser | |
| ENST00000591111.5:c.44046A>C (TTN) | ENSP00000465570.1:p.Arg14682Ser | |
| ENST00000615779.4:c.44046A>C (TTN) | ENSP00000483597.1:p.Arg14682Ser | |
| NM_001256850.1:c.44046A>C (TTN) | NP_001243779.1:p.Arg14682Ser | |
| NM_001267550.2:c.48969A>C (TTN) MANE Select | NP_001254479.2:p.Arg16323Ser | |
| NM_003319.4:c.21774A>C (TTN) | NP_003310.4:p.Arg7258Ser | |
| NM_133378.4:c.41265A>C (TTN) | NP_596869.4:p.Arg13755Ser | |
| NM_133432.3:c.22149A>C (TTN) | NP_597676.3:p.Arg7383Ser | |
| NM_133437.4:c.22350A>C (TTN) | NP_597681.4:p.Arg7450Ser | |
| NR_038271.1:n.1293T>G (TTN-AS1) | ||
| XM_011511729.1:c.48066A>C (TTN) | XP_011510031.1:p.Arg16022Ser | |
| XM_011511730.1:c.21960A>C (TTN) | XP_011510032.1:p.Arg7320Ser | |
| XM_011511731.1:c.21819A>C (TTN) | XP_011510033.1:p.Arg7273Ser | |
| XM_017004819.1:c.47862A>C (TTN) | XP_016860308.1:p.Arg15954Ser | |
| XM_017004820.1:c.43260A>C (TTN) | XP_016860309.1:p.Arg14420Ser | |
| XM_017004821.1:c.43257A>C (TTN) | XP_016860310.1:p.Arg14419Ser | |
| XM_017004822.1:c.40299A>C (TTN) | XP_016860311.1:p.Arg13433Ser | |
| XM_017004823.1:c.21915A>C (TTN) | XP_016860312.1:p.Arg7305Ser | |
| XM_024453094.1:c.43410A>C (TTN) | XP_024308862.1:p.Arg14470Ser | |
| XM_024453095.1:c.43407A>C (TTN) | XP_024308863.1:p.Arg14469Ser | |
| XM_024453096.1:c.42840A>C (TTN) | XP_024308864.1:p.Arg14280Ser | |
| XM_024453097.1:c.40182A>C (TTN) | XP_024308865.1:p.Arg13394Ser | |
| XM_024453098.1:c.40101A>C (TTN) | XP_024308866.1:p.Arg13367Ser | |
| XM_024453099.1:c.21864A>C (TTN) | XP_024308867.1:p.Arg7288Ser | |
| XM_024453100.1:c.11718A>C (TTN) | XP_024308868.1:p.Arg3906Ser |