Revel Score:
ENST00000342992
0.117
ENST00000460472
0.117
ENST00000342175
0.117
ENST00000359218
0.117
ENST00000356127
0.117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614654T>G , CM000664.2:g.178614654T>G | GRCh38 |
| NC_000002.11:g.179479381T>G , CM000664.1:g.179479381T>G | GRCh37 |
| NC_000002.10:g.179187626T>G | NCBI36 |
| NG_011618.3:g.221149A>C , LRG_391:g.221149A>C | |
| NG_051363.1:g.96828T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41156A>C (TTN) | ENSP00000343764.6:p.Glu13719Ala | |
| ENST00000342175.11:c.22241A>C (TTN) | ENSP00000340554.6:p.Glu7414Ala | |
| ENST00000359218.10:c.22040A>C (TTN) | ENSP00000352154.5:p.Glu7347Ala | |
| ENST00000342175.10:c.22241A>C (TTN) | ENSP00000340554.6:p.Glu7414Ala | |
| ENST00000342992.10:c.41156A>C (TTN) | ENSP00000343764.6:p.Glu13719Ala | |
| ENST00000359218.9:c.22040A>C (TTN) | ENSP00000352154.5:p.Glu7347Ala | |
| ENST00000460472.6:c.21665A>C (TTN) | ENSP00000434586.1:p.Glu7222Ala | |
| ENST00000589042.5:c.48860A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu16287Ala | |
| ENST00000591111.5:c.43937A>C (TTN) | ENSP00000465570.1:p.Glu14646Ala | |
| ENST00000615779.4:c.43937A>C (TTN) | ENSP00000483597.1:p.Glu14646Ala | |
| NM_001256850.1:c.43937A>C (TTN) | NP_001243779.1:p.Glu14646Ala | |
| NM_001267550.2:c.48860A>C (TTN) MANE Select | NP_001254479.2:p.Glu16287Ala | |
| NM_003319.4:c.21665A>C (TTN) | NP_003310.4:p.Glu7222Ala | |
| NM_133378.4:c.41156A>C (TTN) | NP_596869.4:p.Glu13719Ala | |
| NM_133432.3:c.22040A>C (TTN) | NP_597676.3:p.Glu7347Ala | |
| NM_133437.4:c.22241A>C (TTN) | NP_597681.4:p.Glu7414Ala | |
| NR_038271.1:n.1402T>G (TTN-AS1) | ||
| XM_011511729.1:c.47957A>C (TTN) | XP_011510031.1:p.Glu15986Ala | |
| XM_011511730.1:c.21851A>C (TTN) | XP_011510032.1:p.Glu7284Ala | |
| XM_011511731.1:c.21710A>C (TTN) | XP_011510033.1:p.Glu7237Ala | |
| XM_017004819.1:c.47753A>C (TTN) | XP_016860308.1:p.Glu15918Ala | |
| XM_017004820.1:c.43151A>C (TTN) | XP_016860309.1:p.Glu14384Ala | |
| XM_017004821.1:c.43148A>C (TTN) | XP_016860310.1:p.Glu14383Ala | |
| XM_017004822.1:c.40190A>C (TTN) | XP_016860311.1:p.Glu13397Ala | |
| XM_017004823.1:c.21806A>C (TTN) | XP_016860312.1:p.Glu7269Ala | |
| XM_024453094.1:c.43301A>C (TTN) | XP_024308862.1:p.Glu14434Ala | |
| XM_024453095.1:c.43298A>C (TTN) | XP_024308863.1:p.Glu14433Ala | |
| XM_024453096.1:c.42731A>C (TTN) | XP_024308864.1:p.Glu14244Ala | |
| XM_024453097.1:c.40073A>C (TTN) | XP_024308865.1:p.Glu13358Ala | |
| XM_024453098.1:c.39992A>C (TTN) | XP_024308866.1:p.Glu13331Ala | |
| XM_024453099.1:c.21755A>C (TTN) | XP_024308867.1:p.Glu7252Ala | |
| XM_024453100.1:c.11609A>C (TTN) | XP_024308868.1:p.Glu3870Ala |