Revel Score:
ENST00000342992
0.483
ENST00000460472
0.483
ENST00000342175
0.483
ENST00000359218
0.483
ENST00000356127
0.483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586711T>G , CM000664.2:g.178586711T>G | GRCh38 |
| NC_000002.11:g.179451438T>G , CM000664.1:g.179451438T>G | GRCh37 |
| NC_000002.10:g.179159684T>G | NCBI36 |
| NG_011618.3:g.249092A>C , LRG_391:g.249092A>C | |
| NG_051363.1:g.68885T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56486A>C (TTN) | ENSP00000343764.6:p.Lys18829Thr | |
| ENST00000342175.11:c.37571A>C (TTN) | ENSP00000340554.6:p.Lys12524Thr | |
| ENST00000359218.10:c.37370A>C (TTN) | ENSP00000352154.5:p.Lys12457Thr | |
| ENST00000342175.10:c.37571A>C (TTN) | ENSP00000340554.6:p.Lys12524Thr | |
| ENST00000342992.10:c.56486A>C (TTN) | ENSP00000343764.6:p.Lys18829Thr | |
| ENST00000359218.9:c.37370A>C (TTN) | ENSP00000352154.5:p.Lys12457Thr | |
| ENST00000460472.6:c.36995A>C (TTN) | ENSP00000434586.1:p.Lys12332Thr | |
| ENST00000589042.5:c.64190A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys21397Thr | |
| ENST00000591111.5:c.59267A>C (TTN) | ENSP00000465570.1:p.Lys19756Thr | |
| ENST00000615779.4:c.59267A>C (TTN) | ENSP00000483597.1:p.Lys19756Thr | |
| NM_001256850.1:c.59267A>C (TTN) | NP_001243779.1:p.Lys19756Thr | |
| NM_001267550.2:c.64190A>C (TTN) MANE Select | NP_001254479.2:p.Lys21397Thr | |
| NM_003319.4:c.36995A>C (TTN) | NP_003310.4:p.Lys12332Thr | |
| NM_133378.4:c.56486A>C (TTN) | NP_596869.4:p.Lys18829Thr | |
| NM_133432.3:c.37370A>C (TTN) | NP_597676.3:p.Lys12457Thr | |
| NM_133437.4:c.37571A>C (TTN) | NP_597681.4:p.Lys12524Thr | |
| NR_038271.1:n.597-10885T>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1718T>G (TTN-AS1) | ||
| XM_011511729.1:c.63287A>C (TTN) | XP_011510031.1:p.Lys21096Thr | |
| XM_011511730.1:c.37181A>C (TTN) | XP_011510032.1:p.Lys12394Thr | |
| XM_011511731.1:c.37040A>C (TTN) | XP_011510033.1:p.Lys12347Thr | |
| XM_017004819.1:c.63083A>C (TTN) | XP_016860308.1:p.Lys21028Thr | |
| XM_017004820.1:c.58481A>C (TTN) | XP_016860309.1:p.Lys19494Thr | |
| XM_017004821.1:c.58478A>C (TTN) | XP_016860310.1:p.Lys19493Thr | |
| XM_017004822.1:c.55520A>C (TTN) | XP_016860311.1:p.Lys18507Thr | |
| XM_017004823.1:c.37136A>C (TTN) | XP_016860312.1:p.Lys12379Thr | |
| XM_024453094.1:c.58631A>C (TTN) | XP_024308862.1:p.Lys19544Thr | |
| XM_024453095.1:c.58628A>C (TTN) | XP_024308863.1:p.Lys19543Thr | |
| XM_024453096.1:c.58061A>C (TTN) | XP_024308864.1:p.Lys19354Thr | |
| XM_024453097.1:c.55403A>C (TTN) | XP_024308865.1:p.Lys18468Thr | |
| XM_024453098.1:c.55322A>C (TTN) | XP_024308866.1:p.Lys18441Thr | |
| XM_024453099.1:c.37085A>C (TTN) | XP_024308867.1:p.Lys12362Thr | |
| XM_024453100.1:c.26939A>C (TTN) | XP_024308868.1:p.Lys8980Thr |