Revel Score:
ENST00000342992
0.224
ENST00000460472
0.224
ENST00000342175
0.224
ENST00000359218
0.224
ENST00000356127
0.224
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614752C>G , CM000664.2:g.178614752C>G | GRCh38 |
| NC_000002.11:g.179479479C>G , CM000664.1:g.179479479C>G | GRCh37 |
| NC_000002.10:g.179187724C>G | NCBI36 |
| NG_011618.3:g.221051G>C , LRG_391:g.221051G>C | |
| NG_051363.1:g.96926C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41058G>C (TTN) | ENSP00000343764.6:p.Glu13686Asp | |
| ENST00000342175.11:c.22143G>C (TTN) | ENSP00000340554.6:p.Glu7381Asp | |
| ENST00000359218.10:c.21942G>C (TTN) | ENSP00000352154.5:p.Glu7314Asp | |
| ENST00000342175.10:c.22143G>C (TTN) | ENSP00000340554.6:p.Glu7381Asp | |
| ENST00000342992.10:c.41058G>C (TTN) | ENSP00000343764.6:p.Glu13686Asp | |
| ENST00000359218.9:c.21942G>C (TTN) | ENSP00000352154.5:p.Glu7314Asp | |
| ENST00000460472.6:c.21567G>C (TTN) | ENSP00000434586.1:p.Glu7189Asp | |
| ENST00000589042.5:c.48762G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu16254Asp | |
| ENST00000591111.5:c.43839G>C (TTN) | ENSP00000465570.1:p.Glu14613Asp | |
| ENST00000615779.4:c.43839G>C (TTN) | ENSP00000483597.1:p.Glu14613Asp | |
| NM_001256850.1:c.43839G>C (TTN) | NP_001243779.1:p.Glu14613Asp | |
| NM_001267550.2:c.48762G>C (TTN) MANE Select | NP_001254479.2:p.Glu16254Asp | |
| NM_003319.4:c.21567G>C (TTN) | NP_003310.4:p.Glu7189Asp | |
| NM_133378.4:c.41058G>C (TTN) | NP_596869.4:p.Glu13686Asp | |
| NM_133432.3:c.21942G>C (TTN) | NP_597676.3:p.Glu7314Asp | |
| NM_133437.4:c.22143G>C (TTN) | NP_597681.4:p.Glu7381Asp | |
| NR_038271.1:n.1500C>G (TTN-AS1) | ||
| XM_011511729.1:c.47859G>C (TTN) | XP_011510031.1:p.Glu15953Asp | |
| XM_011511730.1:c.21753G>C (TTN) | XP_011510032.1:p.Glu7251Asp | |
| XM_011511731.1:c.21612G>C (TTN) | XP_011510033.1:p.Glu7204Asp | |
| XM_017004819.1:c.47655G>C (TTN) | XP_016860308.1:p.Glu15885Asp | |
| XM_017004820.1:c.43053G>C (TTN) | XP_016860309.1:p.Glu14351Asp | |
| XM_017004821.1:c.43050G>C (TTN) | XP_016860310.1:p.Glu14350Asp | |
| XM_017004822.1:c.40092G>C (TTN) | XP_016860311.1:p.Glu13364Asp | |
| XM_017004823.1:c.21708G>C (TTN) | XP_016860312.1:p.Glu7236Asp | |
| XM_024453094.1:c.43203G>C (TTN) | XP_024308862.1:p.Glu14401Asp | |
| XM_024453095.1:c.43200G>C (TTN) | XP_024308863.1:p.Glu14400Asp | |
| XM_024453096.1:c.42633G>C (TTN) | XP_024308864.1:p.Glu14211Asp | |
| XM_024453097.1:c.39975G>C (TTN) | XP_024308865.1:p.Glu13325Asp | |
| XM_024453098.1:c.39894G>C (TTN) | XP_024308866.1:p.Glu13298Asp | |
| XM_024453099.1:c.21657G>C (TTN) | XP_024308867.1:p.Glu7219Asp | |
| XM_024453100.1:c.11511G>C (TTN) | XP_024308868.1:p.Glu3837Asp |