Revel Score:
ENST00000342992
0.219
ENST00000460472
0.219
ENST00000342175
0.219
ENST00000359218
0.219
ENST00000356127
0.219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614549T>C , CM000664.2:g.178614549T>C | GRCh38 |
| NC_000002.11:g.179479276T>C , CM000664.1:g.179479276T>C | GRCh37 |
| NC_000002.10:g.179187521T>C | NCBI36 |
| NG_011618.3:g.221254A>G , LRG_391:g.221254A>G | |
| NG_051363.1:g.96723T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41261A>G (TTN) | ENSP00000343764.6:p.Lys13754Arg | |
| ENST00000342175.11:c.22346A>G (TTN) | ENSP00000340554.6:p.Lys7449Arg | |
| ENST00000359218.10:c.22145A>G (TTN) | ENSP00000352154.5:p.Lys7382Arg | |
| ENST00000342175.10:c.22346A>G (TTN) | ENSP00000340554.6:p.Lys7449Arg | |
| ENST00000342992.10:c.41261A>G (TTN) | ENSP00000343764.6:p.Lys13754Arg | |
| ENST00000359218.9:c.22145A>G (TTN) | ENSP00000352154.5:p.Lys7382Arg | |
| ENST00000460472.6:c.21770A>G (TTN) | ENSP00000434586.1:p.Lys7257Arg | |
| ENST00000589042.5:c.48965A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys16322Arg | |
| ENST00000591111.5:c.44042A>G (TTN) | ENSP00000465570.1:p.Lys14681Arg | |
| ENST00000615779.4:c.44042A>G (TTN) | ENSP00000483597.1:p.Lys14681Arg | |
| NM_001256850.1:c.44042A>G (TTN) | NP_001243779.1:p.Lys14681Arg | |
| NM_001267550.2:c.48965A>G (TTN) MANE Select | NP_001254479.2:p.Lys16322Arg | |
| NM_003319.4:c.21770A>G (TTN) | NP_003310.4:p.Lys7257Arg | |
| NM_133378.4:c.41261A>G (TTN) | NP_596869.4:p.Lys13754Arg | |
| NM_133432.3:c.22145A>G (TTN) | NP_597676.3:p.Lys7382Arg | |
| NM_133437.4:c.22346A>G (TTN) | NP_597681.4:p.Lys7449Arg | |
| NR_038271.1:n.1297T>C (TTN-AS1) | ||
| XM_011511729.1:c.48062A>G (TTN) | XP_011510031.1:p.Lys16021Arg | |
| XM_011511730.1:c.21956A>G (TTN) | XP_011510032.1:p.Lys7319Arg | |
| XM_011511731.1:c.21815A>G (TTN) | XP_011510033.1:p.Lys7272Arg | |
| XM_017004819.1:c.47858A>G (TTN) | XP_016860308.1:p.Lys15953Arg | |
| XM_017004820.1:c.43256A>G (TTN) | XP_016860309.1:p.Lys14419Arg | |
| XM_017004821.1:c.43253A>G (TTN) | XP_016860310.1:p.Lys14418Arg | |
| XM_017004822.1:c.40295A>G (TTN) | XP_016860311.1:p.Lys13432Arg | |
| XM_017004823.1:c.21911A>G (TTN) | XP_016860312.1:p.Lys7304Arg | |
| XM_024453094.1:c.43406A>G (TTN) | XP_024308862.1:p.Lys14469Arg | |
| XM_024453095.1:c.43403A>G (TTN) | XP_024308863.1:p.Lys14468Arg | |
| XM_024453096.1:c.42836A>G (TTN) | XP_024308864.1:p.Lys14279Arg | |
| XM_024453097.1:c.40178A>G (TTN) | XP_024308865.1:p.Lys13393Arg | |
| XM_024453098.1:c.40097A>G (TTN) | XP_024308866.1:p.Lys13366Arg | |
| XM_024453099.1:c.21860A>G (TTN) | XP_024308867.1:p.Lys7287Arg | |
| XM_024453100.1:c.11714A>G (TTN) | XP_024308868.1:p.Lys3905Arg |