Revel Score:
ENST00000342992
0.506
ENST00000460472
0.506
ENST00000342175
0.506
ENST00000359218
0.506
ENST00000356127
0.506
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614634T>G , CM000664.2:g.178614634T>G | GRCh38 |
| NC_000002.11:g.179479361T>G , CM000664.1:g.179479361T>G | GRCh37 |
| NC_000002.10:g.179187606T>G | NCBI36 |
| NG_011618.3:g.221169A>C , LRG_391:g.221169A>C | |
| NG_051363.1:g.96808T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41176A>C (TTN) | ENSP00000343764.6:p.Lys13726Gln | |
| ENST00000342175.11:c.22261A>C (TTN) | ENSP00000340554.6:p.Lys7421Gln | |
| ENST00000359218.10:c.22060A>C (TTN) | ENSP00000352154.5:p.Lys7354Gln | |
| ENST00000342175.10:c.22261A>C (TTN) | ENSP00000340554.6:p.Lys7421Gln | |
| ENST00000342992.10:c.41176A>C (TTN) | ENSP00000343764.6:p.Lys13726Gln | |
| ENST00000359218.9:c.22060A>C (TTN) | ENSP00000352154.5:p.Lys7354Gln | |
| ENST00000460472.6:c.21685A>C (TTN) | ENSP00000434586.1:p.Lys7229Gln | |
| ENST00000589042.5:c.48880A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys16294Gln | |
| ENST00000591111.5:c.43957A>C (TTN) | ENSP00000465570.1:p.Lys14653Gln | |
| ENST00000615779.4:c.43957A>C (TTN) | ENSP00000483597.1:p.Lys14653Gln | |
| NM_001256850.1:c.43957A>C (TTN) | NP_001243779.1:p.Lys14653Gln | |
| NM_001267550.2:c.48880A>C (TTN) MANE Select | NP_001254479.2:p.Lys16294Gln | |
| NM_003319.4:c.21685A>C (TTN) | NP_003310.4:p.Lys7229Gln | |
| NM_133378.4:c.41176A>C (TTN) | NP_596869.4:p.Lys13726Gln | |
| NM_133432.3:c.22060A>C (TTN) | NP_597676.3:p.Lys7354Gln | |
| NM_133437.4:c.22261A>C (TTN) | NP_597681.4:p.Lys7421Gln | |
| NR_038271.1:n.1382T>G (TTN-AS1) | ||
| XM_011511729.1:c.47977A>C (TTN) | XP_011510031.1:p.Lys15993Gln | |
| XM_011511730.1:c.21871A>C (TTN) | XP_011510032.1:p.Lys7291Gln | |
| XM_011511731.1:c.21730A>C (TTN) | XP_011510033.1:p.Lys7244Gln | |
| XM_017004819.1:c.47773A>C (TTN) | XP_016860308.1:p.Lys15925Gln | |
| XM_017004820.1:c.43171A>C (TTN) | XP_016860309.1:p.Lys14391Gln | |
| XM_017004821.1:c.43168A>C (TTN) | XP_016860310.1:p.Lys14390Gln | |
| XM_017004822.1:c.40210A>C (TTN) | XP_016860311.1:p.Lys13404Gln | |
| XM_017004823.1:c.21826A>C (TTN) | XP_016860312.1:p.Lys7276Gln | |
| XM_024453094.1:c.43321A>C (TTN) | XP_024308862.1:p.Lys14441Gln | |
| XM_024453095.1:c.43318A>C (TTN) | XP_024308863.1:p.Lys14440Gln | |
| XM_024453096.1:c.42751A>C (TTN) | XP_024308864.1:p.Lys14251Gln | |
| XM_024453097.1:c.40093A>C (TTN) | XP_024308865.1:p.Lys13365Gln | |
| XM_024453098.1:c.40012A>C (TTN) | XP_024308866.1:p.Lys13338Gln | |
| XM_024453099.1:c.21775A>C (TTN) | XP_024308867.1:p.Lys7259Gln | |
| XM_024453100.1:c.11629A>C (TTN) | XP_024308868.1:p.Lys3877Gln |