Revel Score:
ENST00000342992
0.183
ENST00000460472
0.183
ENST00000342175
0.183
ENST00000359218
0.183
ENST00000356127
0.183
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548674T>A , CM000664.2:g.178548674T>A | GRCh38 |
| NC_000002.11:g.179413401T>A , CM000664.1:g.179413401T>A | GRCh37 |
| NC_000002.10:g.179121647T>A | NCBI36 |
| NG_011618.3:g.287129A>T , LRG_391:g.287129A>T | |
| NG_051363.1:g.30848T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85248A>T (TTN) | ENSP00000343764.6:p.Glu28416Asp | |
| ENST00000342175.11:c.66333A>T (TTN) | ENSP00000340554.6:p.Glu22111Asp | |
| ENST00000359218.10:c.66132A>T (TTN) | ENSP00000352154.5:p.Glu22044Asp | |
| ENST00000342175.10:c.66333A>T (TTN) | ENSP00000340554.6:p.Glu22111Asp | |
| ENST00000342992.10:c.85248A>T (TTN) | ENSP00000343764.6:p.Glu28416Asp | |
| ENST00000359218.9:c.66132A>T (TTN) | ENSP00000352154.5:p.Glu22044Asp | |
| ENST00000460472.6:c.65757A>T (TTN) | ENSP00000434586.1:p.Glu21919Asp | |
| ENST00000589042.5:c.92952A>T (TTN) MANE Select | ENSP00000467141.1:p.Glu30984Asp | |
| ENST00000591111.5:c.88029A>T (TTN) | ENSP00000465570.1:p.Glu29343Asp | |
| ENST00000615779.4:c.88029A>T (TTN) | ENSP00000483597.1:p.Glu29343Asp | |
| NM_001256850.1:c.88029A>T (TTN) | NP_001243779.1:p.Glu29343Asp | |
| NM_001267550.2:c.92952A>T (TTN) MANE Select | NP_001254479.2:p.Glu30984Asp | |
| NM_003319.4:c.65757A>T (TTN) | NP_003310.4:p.Glu21919Asp | |
| NM_133378.4:c.85248A>T (TTN) | NP_596869.4:p.Glu28416Asp | |
| NM_133432.3:c.66132A>T (TTN) | NP_597676.3:p.Glu22044Asp | |
| NM_133437.4:c.66333A>T (TTN) | NP_597681.4:p.Glu22111Asp | |
| NR_038271.1:n.447-22626T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6313T>A (TTN-AS1) | ||
| XM_011511729.1:c.92049A>T (TTN) | XP_011510031.1:p.Glu30683Asp | |
| XM_011511730.1:c.65943A>T (TTN) | XP_011510032.1:p.Glu21981Asp | |
| XM_011511731.1:c.65802A>T (TTN) | XP_011510033.1:p.Glu21934Asp | |
| XM_017004819.1:c.91845A>T (TTN) | XP_016860308.1:p.Glu30615Asp | |
| XM_017004820.1:c.87243A>T (TTN) | XP_016860309.1:p.Glu29081Asp | |
| XM_017004821.1:c.87240A>T (TTN) | XP_016860310.1:p.Glu29080Asp | |
| XM_017004822.1:c.84282A>T (TTN) | XP_016860311.1:p.Glu28094Asp | |
| XM_017004823.1:c.65898A>T (TTN) | XP_016860312.1:p.Glu21966Asp | |
| XM_024453094.1:c.87393A>T (TTN) | XP_024308862.1:p.Glu29131Asp | |
| XM_024453095.1:c.87390A>T (TTN) | XP_024308863.1:p.Glu29130Asp | |
| XM_024453096.1:c.86823A>T (TTN) | XP_024308864.1:p.Glu28941Asp | |
| XM_024453097.1:c.84165A>T (TTN) | XP_024308865.1:p.Glu28055Asp | |
| XM_024453098.1:c.84084A>T (TTN) | XP_024308866.1:p.Glu28028Asp | |
| XM_024453099.1:c.65847A>T (TTN) | XP_024308867.1:p.Glu21949Asp | |
| XM_024453100.1:c.55701A>T (TTN) | XP_024308868.1:p.Glu18567Asp |