Revel Score:
ENST00000342992
0.434
ENST00000460472
0.434
ENST00000342175
0.434
ENST00000359218
0.434
ENST00000356127
0.434
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586718C>T , CM000664.2:g.178586718C>T | GRCh38 |
| NC_000002.11:g.179451445C>T , CM000664.1:g.179451445C>T | GRCh37 |
| NC_000002.10:g.179159691C>T | NCBI36 |
| NG_011618.3:g.249085G>A , LRG_391:g.249085G>A | |
| NG_051363.1:g.68892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56479G>A (TTN) | ENSP00000343764.6:p.Gly18827Ser | |
| ENST00000342175.11:c.37564G>A (TTN) | ENSP00000340554.6:p.Gly12522Ser | |
| ENST00000359218.10:c.37363G>A (TTN) | ENSP00000352154.5:p.Gly12455Ser | |
| ENST00000342175.10:c.37564G>A (TTN) | ENSP00000340554.6:p.Gly12522Ser | |
| ENST00000342992.10:c.56479G>A (TTN) | ENSP00000343764.6:p.Gly18827Ser | |
| ENST00000359218.9:c.37363G>A (TTN) | ENSP00000352154.5:p.Gly12455Ser | |
| ENST00000460472.6:c.36988G>A (TTN) | ENSP00000434586.1:p.Gly12330Ser | |
| ENST00000589042.5:c.64183G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly21395Ser | |
| ENST00000591111.5:c.59260G>A (TTN) | ENSP00000465570.1:p.Gly19754Ser | |
| ENST00000615779.4:c.59260G>A (TTN) | ENSP00000483597.1:p.Gly19754Ser | |
| NM_001256850.1:c.59260G>A (TTN) | NP_001243779.1:p.Gly19754Ser | |
| NM_001267550.2:c.64183G>A (TTN) MANE Select | NP_001254479.2:p.Gly21395Ser | |
| NM_003319.4:c.36988G>A (TTN) | NP_003310.4:p.Gly12330Ser | |
| NM_133378.4:c.56479G>A (TTN) | NP_596869.4:p.Gly18827Ser | |
| NM_133432.3:c.37363G>A (TTN) | NP_597676.3:p.Gly12455Ser | |
| NM_133437.4:c.37564G>A (TTN) | NP_597681.4:p.Gly12522Ser | |
| NR_038271.1:n.597-10878C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+1725C>T (TTN-AS1) | ||
| XM_011511729.1:c.63280G>A (TTN) | XP_011510031.1:p.Gly21094Ser | |
| XM_011511730.1:c.37174G>A (TTN) | XP_011510032.1:p.Gly12392Ser | |
| XM_011511731.1:c.37033G>A (TTN) | XP_011510033.1:p.Gly12345Ser | |
| XM_017004819.1:c.63076G>A (TTN) | XP_016860308.1:p.Gly21026Ser | |
| XM_017004820.1:c.58474G>A (TTN) | XP_016860309.1:p.Gly19492Ser | |
| XM_017004821.1:c.58471G>A (TTN) | XP_016860310.1:p.Gly19491Ser | |
| XM_017004822.1:c.55513G>A (TTN) | XP_016860311.1:p.Gly18505Ser | |
| XM_017004823.1:c.37129G>A (TTN) | XP_016860312.1:p.Gly12377Ser | |
| XM_024453094.1:c.58624G>A (TTN) | XP_024308862.1:p.Gly19542Ser | |
| XM_024453095.1:c.58621G>A (TTN) | XP_024308863.1:p.Gly19541Ser | |
| XM_024453096.1:c.58054G>A (TTN) | XP_024308864.1:p.Gly19352Ser | |
| XM_024453097.1:c.55396G>A (TTN) | XP_024308865.1:p.Gly18466Ser | |
| XM_024453098.1:c.55315G>A (TTN) | XP_024308866.1:p.Gly18439Ser | |
| XM_024453099.1:c.37078G>A (TTN) | XP_024308867.1:p.Gly12360Ser | |
| XM_024453100.1:c.26932G>A (TTN) | XP_024308868.1:p.Gly8978Ser |