Revel Score:
ENST00000342992
0.188
ENST00000460472
0.188
ENST00000342175
0.188
ENST00000359218
0.188
ENST00000356127
0.188
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614750G>A , CM000664.2:g.178614750G>A | GRCh38 |
| NC_000002.11:g.179479477G>A , CM000664.1:g.179479477G>A | GRCh37 |
| NC_000002.10:g.179187722G>A | NCBI36 |
| NG_011618.3:g.221053C>T , LRG_391:g.221053C>T | |
| NG_051363.1:g.96924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41060C>T (TTN) | ENSP00000343764.6:p.Ala13687Val | |
| ENST00000342175.11:c.22145C>T (TTN) | ENSP00000340554.6:p.Ala7382Val | |
| ENST00000359218.10:c.21944C>T (TTN) | ENSP00000352154.5:p.Ala7315Val | |
| ENST00000342175.10:c.22145C>T (TTN) | ENSP00000340554.6:p.Ala7382Val | |
| ENST00000342992.10:c.41060C>T (TTN) | ENSP00000343764.6:p.Ala13687Val | |
| ENST00000359218.9:c.21944C>T (TTN) | ENSP00000352154.5:p.Ala7315Val | |
| ENST00000460472.6:c.21569C>T (TTN) | ENSP00000434586.1:p.Ala7190Val | |
| ENST00000589042.5:c.48764C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala16255Val | |
| ENST00000591111.5:c.43841C>T (TTN) | ENSP00000465570.1:p.Ala14614Val | |
| ENST00000615779.4:c.43841C>T (TTN) | ENSP00000483597.1:p.Ala14614Val | |
| NM_001256850.1:c.43841C>T (TTN) | NP_001243779.1:p.Ala14614Val | |
| NM_001267550.2:c.48764C>T (TTN) MANE Select | NP_001254479.2:p.Ala16255Val | |
| NM_003319.4:c.21569C>T (TTN) | NP_003310.4:p.Ala7190Val | |
| NM_133378.4:c.41060C>T (TTN) | NP_596869.4:p.Ala13687Val | |
| NM_133432.3:c.21944C>T (TTN) | NP_597676.3:p.Ala7315Val | |
| NM_133437.4:c.22145C>T (TTN) | NP_597681.4:p.Ala7382Val | |
| NR_038271.1:n.1498G>A (TTN-AS1) | ||
| XM_011511729.1:c.47861C>T (TTN) | XP_011510031.1:p.Ala15954Val | |
| XM_011511730.1:c.21755C>T (TTN) | XP_011510032.1:p.Ala7252Val | |
| XM_011511731.1:c.21614C>T (TTN) | XP_011510033.1:p.Ala7205Val | |
| XM_017004819.1:c.47657C>T (TTN) | XP_016860308.1:p.Ala15886Val | |
| XM_017004820.1:c.43055C>T (TTN) | XP_016860309.1:p.Ala14352Val | |
| XM_017004821.1:c.43052C>T (TTN) | XP_016860310.1:p.Ala14351Val | |
| XM_017004822.1:c.40094C>T (TTN) | XP_016860311.1:p.Ala13365Val | |
| XM_017004823.1:c.21710C>T (TTN) | XP_016860312.1:p.Ala7237Val | |
| XM_024453094.1:c.43205C>T (TTN) | XP_024308862.1:p.Ala14402Val | |
| XM_024453095.1:c.43202C>T (TTN) | XP_024308863.1:p.Ala14401Val | |
| XM_024453096.1:c.42635C>T (TTN) | XP_024308864.1:p.Ala14212Val | |
| XM_024453097.1:c.39977C>T (TTN) | XP_024308865.1:p.Ala13326Val | |
| XM_024453098.1:c.39896C>T (TTN) | XP_024308866.1:p.Ala13299Val | |
| XM_024453099.1:c.21659C>T (TTN) | XP_024308867.1:p.Ala7220Val | |
| XM_024453100.1:c.11513C>T (TTN) | XP_024308868.1:p.Ala3838Val |