Revel Score:
ENST00000342992
0.507
ENST00000460472
0.507
ENST00000342175
0.507
ENST00000359218
0.507
ENST00000356127
0.507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575504T>A , CM000664.2:g.178575504T>A | GRCh38 |
| NC_000002.11:g.179440231T>A , CM000664.1:g.179440231T>A | GRCh37 |
| NC_000002.10:g.179148477T>A | NCBI36 |
| NG_011618.3:g.260299A>T , LRG_391:g.260299A>T | |
| NG_051363.1:g.57678T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62924A>T (TTN) | ENSP00000343764.6:p.Asp20975Val | |
| ENST00000342175.11:c.44009A>T (TTN) | ENSP00000340554.6:p.Asp14670Val | |
| ENST00000359218.10:c.43808A>T (TTN) | ENSP00000352154.5:p.Asp14603Val | |
| ENST00000342175.10:c.44009A>T (TTN) | ENSP00000340554.6:p.Asp14670Val | |
| ENST00000342992.10:c.62924A>T (TTN) | ENSP00000343764.6:p.Asp20975Val | |
| ENST00000359218.9:c.43808A>T (TTN) | ENSP00000352154.5:p.Asp14603Val | |
| ENST00000460472.6:c.43433A>T (TTN) | ENSP00000434586.1:p.Asp14478Val | |
| ENST00000589042.5:c.70628A>T (TTN) MANE Select | ENSP00000467141.1:p.Asp23543Val | |
| ENST00000591111.5:c.65705A>T (TTN) | ENSP00000465570.1:p.Asp21902Val | |
| ENST00000615779.4:c.65705A>T (TTN) | ENSP00000483597.1:p.Asp21902Val | |
| NM_001256850.1:c.65705A>T (TTN) | NP_001243779.1:p.Asp21902Val | |
| NM_001267550.2:c.70628A>T (TTN) MANE Select | NP_001254479.2:p.Asp23543Val | |
| NM_003319.4:c.43433A>T (TTN) | NP_003310.4:p.Asp14478Val | |
| NM_133378.4:c.62924A>T (TTN) | NP_596869.4:p.Asp20975Val | |
| NM_133432.3:c.43808A>T (TTN) | NP_597676.3:p.Asp14603Val | |
| NM_133437.4:c.44009A>T (TTN) | NP_597681.4:p.Asp14670Val | |
| NR_038271.1:n.596+4055T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-7068T>A (TTN-AS1) | ||
| XM_011511729.1:c.69725A>T (TTN) | XP_011510031.1:p.Asp23242Val | |
| XM_011511730.1:c.43619A>T (TTN) | XP_011510032.1:p.Asp14540Val | |
| XM_011511731.1:c.43478A>T (TTN) | XP_011510033.1:p.Asp14493Val | |
| XM_017004819.1:c.69521A>T (TTN) | XP_016860308.1:p.Asp23174Val | |
| XM_017004820.1:c.64919A>T (TTN) | XP_016860309.1:p.Asp21640Val | |
| XM_017004821.1:c.64916A>T (TTN) | XP_016860310.1:p.Asp21639Val | |
| XM_017004822.1:c.61958A>T (TTN) | XP_016860311.1:p.Asp20653Val | |
| XM_017004823.1:c.43574A>T (TTN) | XP_016860312.1:p.Asp14525Val | |
| XM_024453094.1:c.65069A>T (TTN) | XP_024308862.1:p.Asp21690Val | |
| XM_024453095.1:c.65066A>T (TTN) | XP_024308863.1:p.Asp21689Val | |
| XM_024453096.1:c.64499A>T (TTN) | XP_024308864.1:p.Asp21500Val | |
| XM_024453097.1:c.61841A>T (TTN) | XP_024308865.1:p.Asp20614Val | |
| XM_024453098.1:c.61760A>T (TTN) | XP_024308866.1:p.Asp20587Val | |
| XM_024453099.1:c.43523A>T (TTN) | XP_024308867.1:p.Asp14508Val | |
| XM_024453100.1:c.33377A>T (TTN) | XP_024308868.1:p.Asp11126Val |