Revel Score:
ENST00000342992
0.573
ENST00000460472
0.573
ENST00000342175
0.573
ENST00000359218
0.573
ENST00000356127
0.573
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614633T>G , CM000664.2:g.178614633T>G | GRCh38 |
| NC_000002.11:g.179479360T>G , CM000664.1:g.179479360T>G | GRCh37 |
| NC_000002.10:g.179187605T>G | NCBI36 |
| NG_011618.3:g.221170A>C , LRG_391:g.221170A>C | |
| NG_051363.1:g.96807T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41177A>C (TTN) | ENSP00000343764.6:p.Lys13726Thr | |
| ENST00000342175.11:c.22262A>C (TTN) | ENSP00000340554.6:p.Lys7421Thr | |
| ENST00000359218.10:c.22061A>C (TTN) | ENSP00000352154.5:p.Lys7354Thr | |
| ENST00000342175.10:c.22262A>C (TTN) | ENSP00000340554.6:p.Lys7421Thr | |
| ENST00000342992.10:c.41177A>C (TTN) | ENSP00000343764.6:p.Lys13726Thr | |
| ENST00000359218.9:c.22061A>C (TTN) | ENSP00000352154.5:p.Lys7354Thr | |
| ENST00000460472.6:c.21686A>C (TTN) | ENSP00000434586.1:p.Lys7229Thr | |
| ENST00000589042.5:c.48881A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys16294Thr | |
| ENST00000591111.5:c.43958A>C (TTN) | ENSP00000465570.1:p.Lys14653Thr | |
| ENST00000615779.4:c.43958A>C (TTN) | ENSP00000483597.1:p.Lys14653Thr | |
| NM_001256850.1:c.43958A>C (TTN) | NP_001243779.1:p.Lys14653Thr | |
| NM_001267550.2:c.48881A>C (TTN) MANE Select | NP_001254479.2:p.Lys16294Thr | |
| NM_003319.4:c.21686A>C (TTN) | NP_003310.4:p.Lys7229Thr | |
| NM_133378.4:c.41177A>C (TTN) | NP_596869.4:p.Lys13726Thr | |
| NM_133432.3:c.22061A>C (TTN) | NP_597676.3:p.Lys7354Thr | |
| NM_133437.4:c.22262A>C (TTN) | NP_597681.4:p.Lys7421Thr | |
| NR_038271.1:n.1381T>G (TTN-AS1) | ||
| XM_011511729.1:c.47978A>C (TTN) | XP_011510031.1:p.Lys15993Thr | |
| XM_011511730.1:c.21872A>C (TTN) | XP_011510032.1:p.Lys7291Thr | |
| XM_011511731.1:c.21731A>C (TTN) | XP_011510033.1:p.Lys7244Thr | |
| XM_017004819.1:c.47774A>C (TTN) | XP_016860308.1:p.Lys15925Thr | |
| XM_017004820.1:c.43172A>C (TTN) | XP_016860309.1:p.Lys14391Thr | |
| XM_017004821.1:c.43169A>C (TTN) | XP_016860310.1:p.Lys14390Thr | |
| XM_017004822.1:c.40211A>C (TTN) | XP_016860311.1:p.Lys13404Thr | |
| XM_017004823.1:c.21827A>C (TTN) | XP_016860312.1:p.Lys7276Thr | |
| XM_024453094.1:c.43322A>C (TTN) | XP_024308862.1:p.Lys14441Thr | |
| XM_024453095.1:c.43319A>C (TTN) | XP_024308863.1:p.Lys14440Thr | |
| XM_024453096.1:c.42752A>C (TTN) | XP_024308864.1:p.Lys14251Thr | |
| XM_024453097.1:c.40094A>C (TTN) | XP_024308865.1:p.Lys13365Thr | |
| XM_024453098.1:c.40013A>C (TTN) | XP_024308866.1:p.Lys13338Thr | |
| XM_024453099.1:c.21776A>C (TTN) | XP_024308867.1:p.Lys7259Thr | |
| XM_024453100.1:c.11630A>C (TTN) | XP_024308868.1:p.Lys3877Thr |