Revel Score:
ENST00000342992
0.240
ENST00000460472
0.240
ENST00000342175
0.240
ENST00000359218
0.240
ENST00000356127
0.240
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614654T>A , CM000664.2:g.178614654T>A | GRCh38 |
| NC_000002.11:g.179479381T>A , CM000664.1:g.179479381T>A | GRCh37 |
| NC_000002.10:g.179187626T>A | NCBI36 |
| NG_011618.3:g.221149A>T , LRG_391:g.221149A>T | |
| NG_051363.1:g.96828T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41156A>T (TTN) | ENSP00000343764.6:p.Glu13719Val | |
| ENST00000342175.11:c.22241A>T (TTN) | ENSP00000340554.6:p.Glu7414Val | |
| ENST00000359218.10:c.22040A>T (TTN) | ENSP00000352154.5:p.Glu7347Val | |
| ENST00000342175.10:c.22241A>T (TTN) | ENSP00000340554.6:p.Glu7414Val | |
| ENST00000342992.10:c.41156A>T (TTN) | ENSP00000343764.6:p.Glu13719Val | |
| ENST00000359218.9:c.22040A>T (TTN) | ENSP00000352154.5:p.Glu7347Val | |
| ENST00000460472.6:c.21665A>T (TTN) | ENSP00000434586.1:p.Glu7222Val | |
| ENST00000589042.5:c.48860A>T (TTN) MANE Select | ENSP00000467141.1:p.Glu16287Val | |
| ENST00000591111.5:c.43937A>T (TTN) | ENSP00000465570.1:p.Glu14646Val | |
| ENST00000615779.4:c.43937A>T (TTN) | ENSP00000483597.1:p.Glu14646Val | |
| NM_001256850.1:c.43937A>T (TTN) | NP_001243779.1:p.Glu14646Val | |
| NM_001267550.2:c.48860A>T (TTN) MANE Select | NP_001254479.2:p.Glu16287Val | |
| NM_003319.4:c.21665A>T (TTN) | NP_003310.4:p.Glu7222Val | |
| NM_133378.4:c.41156A>T (TTN) | NP_596869.4:p.Glu13719Val | |
| NM_133432.3:c.22040A>T (TTN) | NP_597676.3:p.Glu7347Val | |
| NM_133437.4:c.22241A>T (TTN) | NP_597681.4:p.Glu7414Val | |
| NR_038271.1:n.1402T>A (TTN-AS1) | ||
| XM_011511729.1:c.47957A>T (TTN) | XP_011510031.1:p.Glu15986Val | |
| XM_011511730.1:c.21851A>T (TTN) | XP_011510032.1:p.Glu7284Val | |
| XM_011511731.1:c.21710A>T (TTN) | XP_011510033.1:p.Glu7237Val | |
| XM_017004819.1:c.47753A>T (TTN) | XP_016860308.1:p.Glu15918Val | |
| XM_017004820.1:c.43151A>T (TTN) | XP_016860309.1:p.Glu14384Val | |
| XM_017004821.1:c.43148A>T (TTN) | XP_016860310.1:p.Glu14383Val | |
| XM_017004822.1:c.40190A>T (TTN) | XP_016860311.1:p.Glu13397Val | |
| XM_017004823.1:c.21806A>T (TTN) | XP_016860312.1:p.Glu7269Val | |
| XM_024453094.1:c.43301A>T (TTN) | XP_024308862.1:p.Glu14434Val | |
| XM_024453095.1:c.43298A>T (TTN) | XP_024308863.1:p.Glu14433Val | |
| XM_024453096.1:c.42731A>T (TTN) | XP_024308864.1:p.Glu14244Val | |
| XM_024453097.1:c.40073A>T (TTN) | XP_024308865.1:p.Glu13358Val | |
| XM_024453098.1:c.39992A>T (TTN) | XP_024308866.1:p.Glu13331Val | |
| XM_024453099.1:c.21755A>T (TTN) | XP_024308867.1:p.Glu7252Val | |
| XM_024453100.1:c.11609A>T (TTN) | XP_024308868.1:p.Glu3870Val |