Revel Score:
ENST00000342992
0.242
ENST00000460472
0.242
ENST00000342175
0.242
ENST00000359218
0.242
ENST00000356127
0.242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575422T>A , CM000664.2:g.178575422T>A | GRCh38 |
| NC_000002.11:g.179440149T>A , CM000664.1:g.179440149T>A | GRCh37 |
| NC_000002.10:g.179148395T>A | NCBI36 |
| NG_011618.3:g.260381A>T , LRG_391:g.260381A>T | |
| NG_051363.1:g.57596T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63006A>T (TTN) | ENSP00000343764.6:p.Glu21002Asp | |
| ENST00000342175.11:c.44091A>T (TTN) | ENSP00000340554.6:p.Glu14697Asp | |
| ENST00000359218.10:c.43890A>T (TTN) | ENSP00000352154.5:p.Glu14630Asp | |
| ENST00000342175.10:c.44091A>T (TTN) | ENSP00000340554.6:p.Glu14697Asp | |
| ENST00000342992.10:c.63006A>T (TTN) | ENSP00000343764.6:p.Glu21002Asp | |
| ENST00000359218.9:c.43890A>T (TTN) | ENSP00000352154.5:p.Glu14630Asp | |
| ENST00000460472.6:c.43515A>T (TTN) | ENSP00000434586.1:p.Glu14505Asp | |
| ENST00000589042.5:c.70710A>T (TTN) MANE Select | ENSP00000467141.1:p.Glu23570Asp | |
| ENST00000591111.5:c.65787A>T (TTN) | ENSP00000465570.1:p.Glu21929Asp | |
| ENST00000615779.4:c.65787A>T (TTN) | ENSP00000483597.1:p.Glu21929Asp | |
| NM_001256850.1:c.65787A>T (TTN) | NP_001243779.1:p.Glu21929Asp | |
| NM_001267550.2:c.70710A>T (TTN) MANE Select | NP_001254479.2:p.Glu23570Asp | |
| NM_003319.4:c.43515A>T (TTN) | NP_003310.4:p.Glu14505Asp | |
| NM_133378.4:c.63006A>T (TTN) | NP_596869.4:p.Glu21002Asp | |
| NM_133432.3:c.43890A>T (TTN) | NP_597676.3:p.Glu14630Asp | |
| NM_133437.4:c.44091A>T (TTN) | NP_597681.4:p.Glu14697Asp | |
| NR_038271.1:n.596+3973T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-7150T>A (TTN-AS1) | ||
| XM_011511729.1:c.69807A>T (TTN) | XP_011510031.1:p.Glu23269Asp | |
| XM_011511730.1:c.43701A>T (TTN) | XP_011510032.1:p.Glu14567Asp | |
| XM_011511731.1:c.43560A>T (TTN) | XP_011510033.1:p.Glu14520Asp | |
| XM_017004819.1:c.69603A>T (TTN) | XP_016860308.1:p.Glu23201Asp | |
| XM_017004820.1:c.65001A>T (TTN) | XP_016860309.1:p.Glu21667Asp | |
| XM_017004821.1:c.64998A>T (TTN) | XP_016860310.1:p.Glu21666Asp | |
| XM_017004822.1:c.62040A>T (TTN) | XP_016860311.1:p.Glu20680Asp | |
| XM_017004823.1:c.43656A>T (TTN) | XP_016860312.1:p.Glu14552Asp | |
| XM_024453094.1:c.65151A>T (TTN) | XP_024308862.1:p.Glu21717Asp | |
| XM_024453095.1:c.65148A>T (TTN) | XP_024308863.1:p.Glu21716Asp | |
| XM_024453096.1:c.64581A>T (TTN) | XP_024308864.1:p.Glu21527Asp | |
| XM_024453097.1:c.61923A>T (TTN) | XP_024308865.1:p.Glu20641Asp | |
| XM_024453098.1:c.61842A>T (TTN) | XP_024308866.1:p.Glu20614Asp | |
| XM_024453099.1:c.43605A>T (TTN) | XP_024308867.1:p.Glu14535Asp | |
| XM_024453100.1:c.33459A>T (TTN) | XP_024308868.1:p.Glu11153Asp |