Revel Score:
ENST00000342992
0.094
ENST00000460472
0.094
ENST00000342175
0.094
ENST00000359218
0.094
ENST00000356127
0.094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614653T>A , CM000664.2:g.178614653T>A | GRCh38 |
| NC_000002.11:g.179479380T>A , CM000664.1:g.179479380T>A | GRCh37 |
| NC_000002.10:g.179187625T>A | NCBI36 |
| NG_011618.3:g.221150A>T , LRG_391:g.221150A>T | |
| NG_051363.1:g.96827T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41157A>T (TTN) | ENSP00000343764.6:p.Glu13719Asp | |
| ENST00000342175.11:c.22242A>T (TTN) | ENSP00000340554.6:p.Glu7414Asp | |
| ENST00000359218.10:c.22041A>T (TTN) | ENSP00000352154.5:p.Glu7347Asp | |
| ENST00000342175.10:c.22242A>T (TTN) | ENSP00000340554.6:p.Glu7414Asp | |
| ENST00000342992.10:c.41157A>T (TTN) | ENSP00000343764.6:p.Glu13719Asp | |
| ENST00000359218.9:c.22041A>T (TTN) | ENSP00000352154.5:p.Glu7347Asp | |
| ENST00000460472.6:c.21666A>T (TTN) | ENSP00000434586.1:p.Glu7222Asp | |
| ENST00000589042.5:c.48861A>T (TTN) MANE Select | ENSP00000467141.1:p.Glu16287Asp | |
| ENST00000591111.5:c.43938A>T (TTN) | ENSP00000465570.1:p.Glu14646Asp | |
| ENST00000615779.4:c.43938A>T (TTN) | ENSP00000483597.1:p.Glu14646Asp | |
| NM_001256850.1:c.43938A>T (TTN) | NP_001243779.1:p.Glu14646Asp | |
| NM_001267550.2:c.48861A>T (TTN) MANE Select | NP_001254479.2:p.Glu16287Asp | |
| NM_003319.4:c.21666A>T (TTN) | NP_003310.4:p.Glu7222Asp | |
| NM_133378.4:c.41157A>T (TTN) | NP_596869.4:p.Glu13719Asp | |
| NM_133432.3:c.22041A>T (TTN) | NP_597676.3:p.Glu7347Asp | |
| NM_133437.4:c.22242A>T (TTN) | NP_597681.4:p.Glu7414Asp | |
| NR_038271.1:n.1401T>A (TTN-AS1) | ||
| XM_011511729.1:c.47958A>T (TTN) | XP_011510031.1:p.Glu15986Asp | |
| XM_011511730.1:c.21852A>T (TTN) | XP_011510032.1:p.Glu7284Asp | |
| XM_011511731.1:c.21711A>T (TTN) | XP_011510033.1:p.Glu7237Asp | |
| XM_017004819.1:c.47754A>T (TTN) | XP_016860308.1:p.Glu15918Asp | |
| XM_017004820.1:c.43152A>T (TTN) | XP_016860309.1:p.Glu14384Asp | |
| XM_017004821.1:c.43149A>T (TTN) | XP_016860310.1:p.Glu14383Asp | |
| XM_017004822.1:c.40191A>T (TTN) | XP_016860311.1:p.Glu13397Asp | |
| XM_017004823.1:c.21807A>T (TTN) | XP_016860312.1:p.Glu7269Asp | |
| XM_024453094.1:c.43302A>T (TTN) | XP_024308862.1:p.Glu14434Asp | |
| XM_024453095.1:c.43299A>T (TTN) | XP_024308863.1:p.Glu14433Asp | |
| XM_024453096.1:c.42732A>T (TTN) | XP_024308864.1:p.Glu14244Asp | |
| XM_024453097.1:c.40074A>T (TTN) | XP_024308865.1:p.Glu13358Asp | |
| XM_024453098.1:c.39993A>T (TTN) | XP_024308866.1:p.Glu13331Asp | |
| XM_024453099.1:c.21756A>T (TTN) | XP_024308867.1:p.Glu7252Asp | |
| XM_024453100.1:c.11610A>T (TTN) | XP_024308868.1:p.Glu3870Asp |