Revel Score:
ENST00000342992
0.292
ENST00000460472
0.292
ENST00000342175
0.292
ENST00000359218
0.292
ENST00000356127
0.292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614654T>C , CM000664.2:g.178614654T>C | GRCh38 |
| NC_000002.11:g.179479381T>C , CM000664.1:g.179479381T>C | GRCh37 |
| NC_000002.10:g.179187626T>C | NCBI36 |
| NG_011618.3:g.221149A>G , LRG_391:g.221149A>G | |
| NG_051363.1:g.96828T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41156A>G (TTN) | ENSP00000343764.6:p.Glu13719Gly | |
| ENST00000342175.11:c.22241A>G (TTN) | ENSP00000340554.6:p.Glu7414Gly | |
| ENST00000359218.10:c.22040A>G (TTN) | ENSP00000352154.5:p.Glu7347Gly | |
| ENST00000342175.10:c.22241A>G (TTN) | ENSP00000340554.6:p.Glu7414Gly | |
| ENST00000342992.10:c.41156A>G (TTN) | ENSP00000343764.6:p.Glu13719Gly | |
| ENST00000359218.9:c.22040A>G (TTN) | ENSP00000352154.5:p.Glu7347Gly | |
| ENST00000460472.6:c.21665A>G (TTN) | ENSP00000434586.1:p.Glu7222Gly | |
| ENST00000589042.5:c.48860A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu16287Gly | |
| ENST00000591111.5:c.43937A>G (TTN) | ENSP00000465570.1:p.Glu14646Gly | |
| ENST00000615779.4:c.43937A>G (TTN) | ENSP00000483597.1:p.Glu14646Gly | |
| NM_001256850.1:c.43937A>G (TTN) | NP_001243779.1:p.Glu14646Gly | |
| NM_001267550.2:c.48860A>G (TTN) MANE Select | NP_001254479.2:p.Glu16287Gly | |
| NM_003319.4:c.21665A>G (TTN) | NP_003310.4:p.Glu7222Gly | |
| NM_133378.4:c.41156A>G (TTN) | NP_596869.4:p.Glu13719Gly | |
| NM_133432.3:c.22040A>G (TTN) | NP_597676.3:p.Glu7347Gly | |
| NM_133437.4:c.22241A>G (TTN) | NP_597681.4:p.Glu7414Gly | |
| NR_038271.1:n.1402T>C (TTN-AS1) | ||
| XM_011511729.1:c.47957A>G (TTN) | XP_011510031.1:p.Glu15986Gly | |
| XM_011511730.1:c.21851A>G (TTN) | XP_011510032.1:p.Glu7284Gly | |
| XM_011511731.1:c.21710A>G (TTN) | XP_011510033.1:p.Glu7237Gly | |
| XM_017004819.1:c.47753A>G (TTN) | XP_016860308.1:p.Glu15918Gly | |
| XM_017004820.1:c.43151A>G (TTN) | XP_016860309.1:p.Glu14384Gly | |
| XM_017004821.1:c.43148A>G (TTN) | XP_016860310.1:p.Glu14383Gly | |
| XM_017004822.1:c.40190A>G (TTN) | XP_016860311.1:p.Glu13397Gly | |
| XM_017004823.1:c.21806A>G (TTN) | XP_016860312.1:p.Glu7269Gly | |
| XM_024453094.1:c.43301A>G (TTN) | XP_024308862.1:p.Glu14434Gly | |
| XM_024453095.1:c.43298A>G (TTN) | XP_024308863.1:p.Glu14433Gly | |
| XM_024453096.1:c.42731A>G (TTN) | XP_024308864.1:p.Glu14244Gly | |
| XM_024453097.1:c.40073A>G (TTN) | XP_024308865.1:p.Glu13358Gly | |
| XM_024453098.1:c.39992A>G (TTN) | XP_024308866.1:p.Glu13331Gly | |
| XM_024453099.1:c.21755A>G (TTN) | XP_024308867.1:p.Glu7252Gly | |
| XM_024453100.1:c.11609A>G (TTN) | XP_024308868.1:p.Glu3870Gly |