Revel Score:
ENST00000342992
0.495
ENST00000460472
0.495
ENST00000342175
0.495
ENST00000359218
0.495
ENST00000356127
0.495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586708A>G , CM000664.2:g.178586708A>G | GRCh38 |
| NC_000002.11:g.179451435A>G , CM000664.1:g.179451435A>G | GRCh37 |
| NC_000002.10:g.179159681A>G | NCBI36 |
| NG_011618.3:g.249095T>C , LRG_391:g.249095T>C | |
| NG_051363.1:g.68882A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56489T>C (TTN) | ENSP00000343764.6:p.Ile18830Thr | |
| ENST00000342175.11:c.37574T>C (TTN) | ENSP00000340554.6:p.Ile12525Thr | |
| ENST00000359218.10:c.37373T>C (TTN) | ENSP00000352154.5:p.Ile12458Thr | |
| ENST00000342175.10:c.37574T>C (TTN) | ENSP00000340554.6:p.Ile12525Thr | |
| ENST00000342992.10:c.56489T>C (TTN) | ENSP00000343764.6:p.Ile18830Thr | |
| ENST00000359218.9:c.37373T>C (TTN) | ENSP00000352154.5:p.Ile12458Thr | |
| ENST00000460472.6:c.36998T>C (TTN) | ENSP00000434586.1:p.Ile12333Thr | |
| ENST00000589042.5:c.64193T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile21398Thr | |
| ENST00000591111.5:c.59270T>C (TTN) | ENSP00000465570.1:p.Ile19757Thr | |
| ENST00000615779.4:c.59270T>C (TTN) | ENSP00000483597.1:p.Ile19757Thr | |
| NM_001256850.1:c.59270T>C (TTN) | NP_001243779.1:p.Ile19757Thr | |
| NM_001267550.2:c.64193T>C (TTN) MANE Select | NP_001254479.2:p.Ile21398Thr | |
| NM_003319.4:c.36998T>C (TTN) | NP_003310.4:p.Ile12333Thr | |
| NM_133378.4:c.56489T>C (TTN) | NP_596869.4:p.Ile18830Thr | |
| NM_133432.3:c.37373T>C (TTN) | NP_597676.3:p.Ile12458Thr | |
| NM_133437.4:c.37574T>C (TTN) | NP_597681.4:p.Ile12525Thr | |
| NR_038271.1:n.597-10888A>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1715A>G (TTN-AS1) | ||
| XM_011511729.1:c.63290T>C (TTN) | XP_011510031.1:p.Ile21097Thr | |
| XM_011511730.1:c.37184T>C (TTN) | XP_011510032.1:p.Ile12395Thr | |
| XM_011511731.1:c.37043T>C (TTN) | XP_011510033.1:p.Ile12348Thr | |
| XM_017004819.1:c.63086T>C (TTN) | XP_016860308.1:p.Ile21029Thr | |
| XM_017004820.1:c.58484T>C (TTN) | XP_016860309.1:p.Ile19495Thr | |
| XM_017004821.1:c.58481T>C (TTN) | XP_016860310.1:p.Ile19494Thr | |
| XM_017004822.1:c.55523T>C (TTN) | XP_016860311.1:p.Ile18508Thr | |
| XM_017004823.1:c.37139T>C (TTN) | XP_016860312.1:p.Ile12380Thr | |
| XM_024453094.1:c.58634T>C (TTN) | XP_024308862.1:p.Ile19545Thr | |
| XM_024453095.1:c.58631T>C (TTN) | XP_024308863.1:p.Ile19544Thr | |
| XM_024453096.1:c.58064T>C (TTN) | XP_024308864.1:p.Ile19355Thr | |
| XM_024453097.1:c.55406T>C (TTN) | XP_024308865.1:p.Ile18469Thr | |
| XM_024453098.1:c.55325T>C (TTN) | XP_024308866.1:p.Ile18442Thr | |
| XM_024453099.1:c.37088T>C (TTN) | XP_024308867.1:p.Ile12363Thr | |
| XM_024453100.1:c.26942T>C (TTN) | XP_024308868.1:p.Ile8981Thr |