Revel Score:
ENST00000342992
0.241
ENST00000460472
0.241
ENST00000342175
0.241
ENST00000359218
0.241
ENST00000356127
0.241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614549T>G , CM000664.2:g.178614549T>G | GRCh38 |
| NC_000002.11:g.179479276T>G , CM000664.1:g.179479276T>G | GRCh37 |
| NC_000002.10:g.179187521T>G | NCBI36 |
| NG_011618.3:g.221254A>C , LRG_391:g.221254A>C | |
| NG_051363.1:g.96723T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41261A>C (TTN) | ENSP00000343764.6:p.Lys13754Thr | |
| ENST00000342175.11:c.22346A>C (TTN) | ENSP00000340554.6:p.Lys7449Thr | |
| ENST00000359218.10:c.22145A>C (TTN) | ENSP00000352154.5:p.Lys7382Thr | |
| ENST00000342175.10:c.22346A>C (TTN) | ENSP00000340554.6:p.Lys7449Thr | |
| ENST00000342992.10:c.41261A>C (TTN) | ENSP00000343764.6:p.Lys13754Thr | |
| ENST00000359218.9:c.22145A>C (TTN) | ENSP00000352154.5:p.Lys7382Thr | |
| ENST00000460472.6:c.21770A>C (TTN) | ENSP00000434586.1:p.Lys7257Thr | |
| ENST00000589042.5:c.48965A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys16322Thr | |
| ENST00000591111.5:c.44042A>C (TTN) | ENSP00000465570.1:p.Lys14681Thr | |
| ENST00000615779.4:c.44042A>C (TTN) | ENSP00000483597.1:p.Lys14681Thr | |
| NM_001256850.1:c.44042A>C (TTN) | NP_001243779.1:p.Lys14681Thr | |
| NM_001267550.2:c.48965A>C (TTN) MANE Select | NP_001254479.2:p.Lys16322Thr | |
| NM_003319.4:c.21770A>C (TTN) | NP_003310.4:p.Lys7257Thr | |
| NM_133378.4:c.41261A>C (TTN) | NP_596869.4:p.Lys13754Thr | |
| NM_133432.3:c.22145A>C (TTN) | NP_597676.3:p.Lys7382Thr | |
| NM_133437.4:c.22346A>C (TTN) | NP_597681.4:p.Lys7449Thr | |
| NR_038271.1:n.1297T>G (TTN-AS1) | ||
| XM_011511729.1:c.48062A>C (TTN) | XP_011510031.1:p.Lys16021Thr | |
| XM_011511730.1:c.21956A>C (TTN) | XP_011510032.1:p.Lys7319Thr | |
| XM_011511731.1:c.21815A>C (TTN) | XP_011510033.1:p.Lys7272Thr | |
| XM_017004819.1:c.47858A>C (TTN) | XP_016860308.1:p.Lys15953Thr | |
| XM_017004820.1:c.43256A>C (TTN) | XP_016860309.1:p.Lys14419Thr | |
| XM_017004821.1:c.43253A>C (TTN) | XP_016860310.1:p.Lys14418Thr | |
| XM_017004822.1:c.40295A>C (TTN) | XP_016860311.1:p.Lys13432Thr | |
| XM_017004823.1:c.21911A>C (TTN) | XP_016860312.1:p.Lys7304Thr | |
| XM_024453094.1:c.43406A>C (TTN) | XP_024308862.1:p.Lys14469Thr | |
| XM_024453095.1:c.43403A>C (TTN) | XP_024308863.1:p.Lys14468Thr | |
| XM_024453096.1:c.42836A>C (TTN) | XP_024308864.1:p.Lys14279Thr | |
| XM_024453097.1:c.40178A>C (TTN) | XP_024308865.1:p.Lys13393Thr | |
| XM_024453098.1:c.40097A>C (TTN) | XP_024308866.1:p.Lys13366Thr | |
| XM_024453099.1:c.21860A>C (TTN) | XP_024308867.1:p.Lys7287Thr | |
| XM_024453100.1:c.11714A>C (TTN) | XP_024308868.1:p.Lys3905Thr |