Revel Score:
ENST00000342992
0.265
ENST00000460472
0.265
ENST00000342175
0.265
ENST00000359218
0.265
ENST00000356127
0.265
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614666G>A , CM000664.2:g.178614666G>A | GRCh38 |
| NC_000002.11:g.179479393G>A , CM000664.1:g.179479393G>A | GRCh37 |
| NC_000002.10:g.179187638G>A | NCBI36 |
| NG_011618.3:g.221137C>T , LRG_391:g.221137C>T | |
| NG_051363.1:g.96840G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41144C>T (TTN) | ENSP00000343764.6:p.Thr13715Ile | |
| ENST00000342175.11:c.22229C>T (TTN) | ENSP00000340554.6:p.Thr7410Ile | |
| ENST00000359218.10:c.22028C>T (TTN) | ENSP00000352154.5:p.Thr7343Ile | |
| ENST00000342175.10:c.22229C>T (TTN) | ENSP00000340554.6:p.Thr7410Ile | |
| ENST00000342992.10:c.41144C>T (TTN) | ENSP00000343764.6:p.Thr13715Ile | |
| ENST00000359218.9:c.22028C>T (TTN) | ENSP00000352154.5:p.Thr7343Ile | |
| ENST00000460472.6:c.21653C>T (TTN) | ENSP00000434586.1:p.Thr7218Ile | |
| ENST00000589042.5:c.48848C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr16283Ile | |
| ENST00000591111.5:c.43925C>T (TTN) | ENSP00000465570.1:p.Thr14642Ile | |
| ENST00000615779.4:c.43925C>T (TTN) | ENSP00000483597.1:p.Thr14642Ile | |
| NM_001256850.1:c.43925C>T (TTN) | NP_001243779.1:p.Thr14642Ile | |
| NM_001267550.2:c.48848C>T (TTN) MANE Select | NP_001254479.2:p.Thr16283Ile | |
| NM_003319.4:c.21653C>T (TTN) | NP_003310.4:p.Thr7218Ile | |
| NM_133378.4:c.41144C>T (TTN) | NP_596869.4:p.Thr13715Ile | |
| NM_133432.3:c.22028C>T (TTN) | NP_597676.3:p.Thr7343Ile | |
| NM_133437.4:c.22229C>T (TTN) | NP_597681.4:p.Thr7410Ile | |
| NR_038271.1:n.1414G>A (TTN-AS1) | ||
| XM_011511729.1:c.47945C>T (TTN) | XP_011510031.1:p.Thr15982Ile | |
| XM_011511730.1:c.21839C>T (TTN) | XP_011510032.1:p.Thr7280Ile | |
| XM_011511731.1:c.21698C>T (TTN) | XP_011510033.1:p.Thr7233Ile | |
| XM_017004819.1:c.47741C>T (TTN) | XP_016860308.1:p.Thr15914Ile | |
| XM_017004820.1:c.43139C>T (TTN) | XP_016860309.1:p.Thr14380Ile | |
| XM_017004821.1:c.43136C>T (TTN) | XP_016860310.1:p.Thr14379Ile | |
| XM_017004822.1:c.40178C>T (TTN) | XP_016860311.1:p.Thr13393Ile | |
| XM_017004823.1:c.21794C>T (TTN) | XP_016860312.1:p.Thr7265Ile | |
| XM_024453094.1:c.43289C>T (TTN) | XP_024308862.1:p.Thr14430Ile | |
| XM_024453095.1:c.43286C>T (TTN) | XP_024308863.1:p.Thr14429Ile | |
| XM_024453096.1:c.42719C>T (TTN) | XP_024308864.1:p.Thr14240Ile | |
| XM_024453097.1:c.40061C>T (TTN) | XP_024308865.1:p.Thr13354Ile | |
| XM_024453098.1:c.39980C>T (TTN) | XP_024308866.1:p.Thr13327Ile | |
| XM_024453099.1:c.21743C>T (TTN) | XP_024308867.1:p.Thr7248Ile | |
| XM_024453100.1:c.11597C>T (TTN) | XP_024308868.1:p.Thr3866Ile |