Revel Score:
ENST00000342992
0.188
ENST00000460472
0.188
ENST00000342175
0.188
ENST00000359218
0.188
ENST00000356127
0.188
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614655C>G , CM000664.2:g.178614655C>G | GRCh38 |
| NC_000002.11:g.179479382C>G , CM000664.1:g.179479382C>G | GRCh37 |
| NC_000002.10:g.179187627C>G | NCBI36 |
| NG_011618.3:g.221148G>C , LRG_391:g.221148G>C | |
| NG_051363.1:g.96829C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41155G>C (TTN) | ENSP00000343764.6:p.Glu13719Gln | |
| ENST00000342175.11:c.22240G>C (TTN) | ENSP00000340554.6:p.Glu7414Gln | |
| ENST00000359218.10:c.22039G>C (TTN) | ENSP00000352154.5:p.Glu7347Gln | |
| ENST00000342175.10:c.22240G>C (TTN) | ENSP00000340554.6:p.Glu7414Gln | |
| ENST00000342992.10:c.41155G>C (TTN) | ENSP00000343764.6:p.Glu13719Gln | |
| ENST00000359218.9:c.22039G>C (TTN) | ENSP00000352154.5:p.Glu7347Gln | |
| ENST00000460472.6:c.21664G>C (TTN) | ENSP00000434586.1:p.Glu7222Gln | |
| ENST00000589042.5:c.48859G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu16287Gln | |
| ENST00000591111.5:c.43936G>C (TTN) | ENSP00000465570.1:p.Glu14646Gln | |
| ENST00000615779.4:c.43936G>C (TTN) | ENSP00000483597.1:p.Glu14646Gln | |
| NM_001256850.1:c.43936G>C (TTN) | NP_001243779.1:p.Glu14646Gln | |
| NM_001267550.2:c.48859G>C (TTN) MANE Select | NP_001254479.2:p.Glu16287Gln | |
| NM_003319.4:c.21664G>C (TTN) | NP_003310.4:p.Glu7222Gln | |
| NM_133378.4:c.41155G>C (TTN) | NP_596869.4:p.Glu13719Gln | |
| NM_133432.3:c.22039G>C (TTN) | NP_597676.3:p.Glu7347Gln | |
| NM_133437.4:c.22240G>C (TTN) | NP_597681.4:p.Glu7414Gln | |
| NR_038271.1:n.1403C>G (TTN-AS1) | ||
| XM_011511729.1:c.47956G>C (TTN) | XP_011510031.1:p.Glu15986Gln | |
| XM_011511730.1:c.21850G>C (TTN) | XP_011510032.1:p.Glu7284Gln | |
| XM_011511731.1:c.21709G>C (TTN) | XP_011510033.1:p.Glu7237Gln | |
| XM_017004819.1:c.47752G>C (TTN) | XP_016860308.1:p.Glu15918Gln | |
| XM_017004820.1:c.43150G>C (TTN) | XP_016860309.1:p.Glu14384Gln | |
| XM_017004821.1:c.43147G>C (TTN) | XP_016860310.1:p.Glu14383Gln | |
| XM_017004822.1:c.40189G>C (TTN) | XP_016860311.1:p.Glu13397Gln | |
| XM_017004823.1:c.21805G>C (TTN) | XP_016860312.1:p.Glu7269Gln | |
| XM_024453094.1:c.43300G>C (TTN) | XP_024308862.1:p.Glu14434Gln | |
| XM_024453095.1:c.43297G>C (TTN) | XP_024308863.1:p.Glu14433Gln | |
| XM_024453096.1:c.42730G>C (TTN) | XP_024308864.1:p.Glu14244Gln | |
| XM_024453097.1:c.40072G>C (TTN) | XP_024308865.1:p.Glu13358Gln | |
| XM_024453098.1:c.39991G>C (TTN) | XP_024308866.1:p.Glu13331Gln | |
| XM_024453099.1:c.21754G>C (TTN) | XP_024308867.1:p.Glu7252Gln | |
| XM_024453100.1:c.11608G>C (TTN) | XP_024308868.1:p.Glu3870Gln |