Revel Score:
ENST00000342992
0.305
ENST00000460472
0.305
ENST00000342175
0.305
ENST00000359218
0.305
ENST00000356127
0.305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614670C>G , CM000664.2:g.178614670C>G | GRCh38 |
| NC_000002.11:g.179479397C>G , CM000664.1:g.179479397C>G | GRCh37 |
| NC_000002.10:g.179187642C>G | NCBI36 |
| NG_011618.3:g.221133G>C , LRG_391:g.221133G>C | |
| NG_051363.1:g.96844C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41140G>C (TTN) | ENSP00000343764.6:p.Val13714Leu | |
| ENST00000342175.11:c.22225G>C (TTN) | ENSP00000340554.6:p.Val7409Leu | |
| ENST00000359218.10:c.22024G>C (TTN) | ENSP00000352154.5:p.Val7342Leu | |
| ENST00000342175.10:c.22225G>C (TTN) | ENSP00000340554.6:p.Val7409Leu | |
| ENST00000342992.10:c.41140G>C (TTN) | ENSP00000343764.6:p.Val13714Leu | |
| ENST00000359218.9:c.22024G>C (TTN) | ENSP00000352154.5:p.Val7342Leu | |
| ENST00000460472.6:c.21649G>C (TTN) | ENSP00000434586.1:p.Val7217Leu | |
| ENST00000589042.5:c.48844G>C (TTN) MANE Select | ENSP00000467141.1:p.Val16282Leu | |
| ENST00000591111.5:c.43921G>C (TTN) | ENSP00000465570.1:p.Val14641Leu | |
| ENST00000615779.4:c.43921G>C (TTN) | ENSP00000483597.1:p.Val14641Leu | |
| NM_001256850.1:c.43921G>C (TTN) | NP_001243779.1:p.Val14641Leu | |
| NM_001267550.2:c.48844G>C (TTN) MANE Select | NP_001254479.2:p.Val16282Leu | |
| NM_003319.4:c.21649G>C (TTN) | NP_003310.4:p.Val7217Leu | |
| NM_133378.4:c.41140G>C (TTN) | NP_596869.4:p.Val13714Leu | |
| NM_133432.3:c.22024G>C (TTN) | NP_597676.3:p.Val7342Leu | |
| NM_133437.4:c.22225G>C (TTN) | NP_597681.4:p.Val7409Leu | |
| NR_038271.1:n.1418C>G (TTN-AS1) | ||
| XM_011511729.1:c.47941G>C (TTN) | XP_011510031.1:p.Val15981Leu | |
| XM_011511730.1:c.21835G>C (TTN) | XP_011510032.1:p.Val7279Leu | |
| XM_011511731.1:c.21694G>C (TTN) | XP_011510033.1:p.Val7232Leu | |
| XM_017004819.1:c.47737G>C (TTN) | XP_016860308.1:p.Val15913Leu | |
| XM_017004820.1:c.43135G>C (TTN) | XP_016860309.1:p.Val14379Leu | |
| XM_017004821.1:c.43132G>C (TTN) | XP_016860310.1:p.Val14378Leu | |
| XM_017004822.1:c.40174G>C (TTN) | XP_016860311.1:p.Val13392Leu | |
| XM_017004823.1:c.21790G>C (TTN) | XP_016860312.1:p.Val7264Leu | |
| XM_024453094.1:c.43285G>C (TTN) | XP_024308862.1:p.Val14429Leu | |
| XM_024453095.1:c.43282G>C (TTN) | XP_024308863.1:p.Val14428Leu | |
| XM_024453096.1:c.42715G>C (TTN) | XP_024308864.1:p.Val14239Leu | |
| XM_024453097.1:c.40057G>C (TTN) | XP_024308865.1:p.Val13353Leu | |
| XM_024453098.1:c.39976G>C (TTN) | XP_024308866.1:p.Val13326Leu | |
| XM_024453099.1:c.21739G>C (TTN) | XP_024308867.1:p.Val7247Leu | |
| XM_024453100.1:c.11593G>C (TTN) | XP_024308868.1:p.Val3865Leu |