Revel Score:
ENST00000342992
0.170
ENST00000460472
0.170
ENST00000342175
0.170
ENST00000359218
0.170
ENST00000356127
0.170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614648T>A , CM000664.2:g.178614648T>A | GRCh38 |
| NC_000002.11:g.179479375T>A , CM000664.1:g.179479375T>A | GRCh37 |
| NC_000002.10:g.179187620T>A | NCBI36 |
| NG_011618.3:g.221155A>T , LRG_391:g.221155A>T | |
| NG_051363.1:g.96822T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41162A>T (TTN) | ENSP00000343764.6:p.Lys13721Ile | |
| ENST00000342175.11:c.22247A>T (TTN) | ENSP00000340554.6:p.Lys7416Ile | |
| ENST00000359218.10:c.22046A>T (TTN) | ENSP00000352154.5:p.Lys7349Ile | |
| ENST00000342175.10:c.22247A>T (TTN) | ENSP00000340554.6:p.Lys7416Ile | |
| ENST00000342992.10:c.41162A>T (TTN) | ENSP00000343764.6:p.Lys13721Ile | |
| ENST00000359218.9:c.22046A>T (TTN) | ENSP00000352154.5:p.Lys7349Ile | |
| ENST00000460472.6:c.21671A>T (TTN) | ENSP00000434586.1:p.Lys7224Ile | |
| ENST00000589042.5:c.48866A>T (TTN) MANE Select | ENSP00000467141.1:p.Lys16289Ile | |
| ENST00000591111.5:c.43943A>T (TTN) | ENSP00000465570.1:p.Lys14648Ile | |
| ENST00000615779.4:c.43943A>T (TTN) | ENSP00000483597.1:p.Lys14648Ile | |
| NM_001256850.1:c.43943A>T (TTN) | NP_001243779.1:p.Lys14648Ile | |
| NM_001267550.2:c.48866A>T (TTN) MANE Select | NP_001254479.2:p.Lys16289Ile | |
| NM_003319.4:c.21671A>T (TTN) | NP_003310.4:p.Lys7224Ile | |
| NM_133378.4:c.41162A>T (TTN) | NP_596869.4:p.Lys13721Ile | |
| NM_133432.3:c.22046A>T (TTN) | NP_597676.3:p.Lys7349Ile | |
| NM_133437.4:c.22247A>T (TTN) | NP_597681.4:p.Lys7416Ile | |
| NR_038271.1:n.1396T>A (TTN-AS1) | ||
| XM_011511729.1:c.47963A>T (TTN) | XP_011510031.1:p.Lys15988Ile | |
| XM_011511730.1:c.21857A>T (TTN) | XP_011510032.1:p.Lys7286Ile | |
| XM_011511731.1:c.21716A>T (TTN) | XP_011510033.1:p.Lys7239Ile | |
| XM_017004819.1:c.47759A>T (TTN) | XP_016860308.1:p.Lys15920Ile | |
| XM_017004820.1:c.43157A>T (TTN) | XP_016860309.1:p.Lys14386Ile | |
| XM_017004821.1:c.43154A>T (TTN) | XP_016860310.1:p.Lys14385Ile | |
| XM_017004822.1:c.40196A>T (TTN) | XP_016860311.1:p.Lys13399Ile | |
| XM_017004823.1:c.21812A>T (TTN) | XP_016860312.1:p.Lys7271Ile | |
| XM_024453094.1:c.43307A>T (TTN) | XP_024308862.1:p.Lys14436Ile | |
| XM_024453095.1:c.43304A>T (TTN) | XP_024308863.1:p.Lys14435Ile | |
| XM_024453096.1:c.42737A>T (TTN) | XP_024308864.1:p.Lys14246Ile | |
| XM_024453097.1:c.40079A>T (TTN) | XP_024308865.1:p.Lys13360Ile | |
| XM_024453098.1:c.39998A>T (TTN) | XP_024308866.1:p.Lys13333Ile | |
| XM_024453099.1:c.21761A>T (TTN) | XP_024308867.1:p.Lys7254Ile | |
| XM_024453100.1:c.11615A>T (TTN) | XP_024308868.1:p.Lys3872Ile |