Revel Score:
ENST00000342992
0.270
ENST00000460472
0.270
ENST00000342175
0.270
ENST00000359218
0.270
ENST00000356127
0.270
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607485G>T , CM000664.2:g.178607485G>T | GRCh38 |
| NC_000002.11:g.179472212G>T , CM000664.1:g.179472212G>T | GRCh37 |
| NC_000002.10:g.179180457G>T | NCBI36 |
| NG_011618.3:g.228318C>A , LRG_391:g.228318C>A | |
| NG_051363.1:g.89659G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45499C>A (TTN) | ENSP00000343764.6:p.Leu15167Met | |
| ENST00000342175.11:c.26584C>A (TTN) | ENSP00000340554.6:p.Leu8862Met | |
| ENST00000359218.10:c.26383C>A (TTN) | ENSP00000352154.5:p.Leu8795Met | |
| ENST00000342175.10:c.26584C>A (TTN) | ENSP00000340554.6:p.Leu8862Met | |
| ENST00000342992.10:c.45499C>A (TTN) | ENSP00000343764.6:p.Leu15167Met | |
| ENST00000359218.9:c.26383C>A (TTN) | ENSP00000352154.5:p.Leu8795Met | |
| ENST00000460472.6:c.26008C>A (TTN) | ENSP00000434586.1:p.Leu8670Met | |
| ENST00000589042.5:c.53203C>A (TTN) MANE Select | ENSP00000467141.1:p.Leu17735Met | |
| ENST00000591111.5:c.48280C>A (TTN) | ENSP00000465570.1:p.Leu16094Met | |
| ENST00000615779.4:c.48280C>A (TTN) | ENSP00000483597.1:p.Leu16094Met | |
| NM_001256850.1:c.48280C>A (TTN) | NP_001243779.1:p.Leu16094Met | |
| NM_001267550.2:c.53203C>A (TTN) MANE Select | NP_001254479.2:p.Leu17735Met | |
| NM_003319.4:c.26008C>A (TTN) | NP_003310.4:p.Leu8670Met | |
| NM_133378.4:c.45499C>A (TTN) | NP_596869.4:p.Leu15167Met | |
| NM_133432.3:c.26383C>A (TTN) | NP_597676.3:p.Leu8795Met | |
| NM_133437.4:c.26584C>A (TTN) | NP_597681.4:p.Leu8862Met | |
| NR_038271.1:n.683-682G>T (TTN-AS1) | ||
| XM_011511729.1:c.52300C>A (TTN) | XP_011510031.1:p.Leu17434Met | |
| XM_011511730.1:c.26194C>A (TTN) | XP_011510032.1:p.Leu8732Met | |
| XM_011511731.1:c.26053C>A (TTN) | XP_011510033.1:p.Leu8685Met | |
| XM_017004819.1:c.52096C>A (TTN) | XP_016860308.1:p.Leu17366Met | |
| XM_017004820.1:c.47494C>A (TTN) | XP_016860309.1:p.Leu15832Met | |
| XM_017004821.1:c.47491C>A (TTN) | XP_016860310.1:p.Leu15831Met | |
| XM_017004822.1:c.44533C>A (TTN) | XP_016860311.1:p.Leu14845Met | |
| XM_017004823.1:c.26149C>A (TTN) | XP_016860312.1:p.Leu8717Met | |
| XM_024453094.1:c.47644C>A (TTN) | XP_024308862.1:p.Leu15882Met | |
| XM_024453095.1:c.47641C>A (TTN) | XP_024308863.1:p.Leu15881Met | |
| XM_024453096.1:c.47074C>A (TTN) | XP_024308864.1:p.Leu15692Met | |
| XM_024453097.1:c.44416C>A (TTN) | XP_024308865.1:p.Leu14806Met | |
| XM_024453098.1:c.44335C>A (TTN) | XP_024308866.1:p.Leu14779Met | |
| XM_024453099.1:c.26098C>A (TTN) | XP_024308867.1:p.Leu8700Met | |
| XM_024453100.1:c.15952C>A (TTN) | XP_024308868.1:p.Leu5318Met |