Revel Score:
ENST00000342992
0.134
ENST00000460472
0.134
ENST00000342175
0.134
ENST00000359218
0.134
ENST00000356127
0.134
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010458 (EAS)
Genomes Max Group AF
0.00038425 (EAS)
Exomes Max Group AF
0.00003893 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614670C>T , CM000664.2:g.178614670C>T | GRCh38 |
| NC_000002.11:g.179479397C>T , CM000664.1:g.179479397C>T | GRCh37 |
| NC_000002.10:g.179187642C>T | NCBI36 |
| NG_011618.3:g.221133G>A , LRG_391:g.221133G>A | |
| NG_051363.1:g.96844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41140G>A (TTN) | ENSP00000343764.6:p.Val13714Ile | |
| ENST00000342175.11:c.22225G>A (TTN) | ENSP00000340554.6:p.Val7409Ile | |
| ENST00000359218.10:c.22024G>A (TTN) | ENSP00000352154.5:p.Val7342Ile | |
| ENST00000342175.10:c.22225G>A (TTN) | ENSP00000340554.6:p.Val7409Ile | |
| ENST00000342992.10:c.41140G>A (TTN) | ENSP00000343764.6:p.Val13714Ile | |
| ENST00000359218.9:c.22024G>A (TTN) | ENSP00000352154.5:p.Val7342Ile | |
| ENST00000460472.6:c.21649G>A (TTN) | ENSP00000434586.1:p.Val7217Ile | |
| ENST00000589042.5:c.48844G>A (TTN) MANE Select | ENSP00000467141.1:p.Val16282Ile | |
| ENST00000591111.5:c.43921G>A (TTN) | ENSP00000465570.1:p.Val14641Ile | |
| ENST00000615779.4:c.43921G>A (TTN) | ENSP00000483597.1:p.Val14641Ile | |
| NM_001256850.1:c.43921G>A (TTN) | NP_001243779.1:p.Val14641Ile | |
| NM_001267550.2:c.48844G>A (TTN) MANE Select | NP_001254479.2:p.Val16282Ile | |
| NM_003319.4:c.21649G>A (TTN) | NP_003310.4:p.Val7217Ile | |
| NM_133378.4:c.41140G>A (TTN) | NP_596869.4:p.Val13714Ile | |
| NM_133432.3:c.22024G>A (TTN) | NP_597676.3:p.Val7342Ile | |
| NM_133437.4:c.22225G>A (TTN) | NP_597681.4:p.Val7409Ile | |
| NR_038271.1:n.1418C>T (TTN-AS1) | ||
| XM_011511729.1:c.47941G>A (TTN) | XP_011510031.1:p.Val15981Ile | |
| XM_011511730.1:c.21835G>A (TTN) | XP_011510032.1:p.Val7279Ile | |
| XM_011511731.1:c.21694G>A (TTN) | XP_011510033.1:p.Val7232Ile | |
| XM_017004819.1:c.47737G>A (TTN) | XP_016860308.1:p.Val15913Ile | |
| XM_017004820.1:c.43135G>A (TTN) | XP_016860309.1:p.Val14379Ile | |
| XM_017004821.1:c.43132G>A (TTN) | XP_016860310.1:p.Val14378Ile | |
| XM_017004822.1:c.40174G>A (TTN) | XP_016860311.1:p.Val13392Ile | |
| XM_017004823.1:c.21790G>A (TTN) | XP_016860312.1:p.Val7264Ile | |
| XM_024453094.1:c.43285G>A (TTN) | XP_024308862.1:p.Val14429Ile | |
| XM_024453095.1:c.43282G>A (TTN) | XP_024308863.1:p.Val14428Ile | |
| XM_024453096.1:c.42715G>A (TTN) | XP_024308864.1:p.Val14239Ile | |
| XM_024453097.1:c.40057G>A (TTN) | XP_024308865.1:p.Val13353Ile | |
| XM_024453098.1:c.39976G>A (TTN) | XP_024308866.1:p.Val13326Ile | |
| XM_024453099.1:c.21739G>A (TTN) | XP_024308867.1:p.Val7247Ile | |
| XM_024453100.1:c.11593G>A (TTN) | XP_024308868.1:p.Val3865Ile |