Revel Score:
ENST00000342992
0.331
ENST00000460472
0.331
ENST00000342175
0.331
ENST00000359218
0.331
ENST00000356127
0.331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586711T>C , CM000664.2:g.178586711T>C | GRCh38 |
| NC_000002.11:g.179451438T>C , CM000664.1:g.179451438T>C | GRCh37 |
| NC_000002.10:g.179159684T>C | NCBI36 |
| NG_011618.3:g.249092A>G , LRG_391:g.249092A>G | |
| NG_051363.1:g.68885T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56486A>G (TTN) | ENSP00000343764.6:p.Lys18829Arg | |
| ENST00000342175.11:c.37571A>G (TTN) | ENSP00000340554.6:p.Lys12524Arg | |
| ENST00000359218.10:c.37370A>G (TTN) | ENSP00000352154.5:p.Lys12457Arg | |
| ENST00000342175.10:c.37571A>G (TTN) | ENSP00000340554.6:p.Lys12524Arg | |
| ENST00000342992.10:c.56486A>G (TTN) | ENSP00000343764.6:p.Lys18829Arg | |
| ENST00000359218.9:c.37370A>G (TTN) | ENSP00000352154.5:p.Lys12457Arg | |
| ENST00000460472.6:c.36995A>G (TTN) | ENSP00000434586.1:p.Lys12332Arg | |
| ENST00000589042.5:c.64190A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys21397Arg | |
| ENST00000591111.5:c.59267A>G (TTN) | ENSP00000465570.1:p.Lys19756Arg | |
| ENST00000615779.4:c.59267A>G (TTN) | ENSP00000483597.1:p.Lys19756Arg | |
| NM_001256850.1:c.59267A>G (TTN) | NP_001243779.1:p.Lys19756Arg | |
| NM_001267550.2:c.64190A>G (TTN) MANE Select | NP_001254479.2:p.Lys21397Arg | |
| NM_003319.4:c.36995A>G (TTN) | NP_003310.4:p.Lys12332Arg | |
| NM_133378.4:c.56486A>G (TTN) | NP_596869.4:p.Lys18829Arg | |
| NM_133432.3:c.37370A>G (TTN) | NP_597676.3:p.Lys12457Arg | |
| NM_133437.4:c.37571A>G (TTN) | NP_597681.4:p.Lys12524Arg | |
| NR_038271.1:n.597-10885T>C (TTN-AS1) | ||
| NR_038272.1:n.3188+1718T>C (TTN-AS1) | ||
| XM_011511729.1:c.63287A>G (TTN) | XP_011510031.1:p.Lys21096Arg | |
| XM_011511730.1:c.37181A>G (TTN) | XP_011510032.1:p.Lys12394Arg | |
| XM_011511731.1:c.37040A>G (TTN) | XP_011510033.1:p.Lys12347Arg | |
| XM_017004819.1:c.63083A>G (TTN) | XP_016860308.1:p.Lys21028Arg | |
| XM_017004820.1:c.58481A>G (TTN) | XP_016860309.1:p.Lys19494Arg | |
| XM_017004821.1:c.58478A>G (TTN) | XP_016860310.1:p.Lys19493Arg | |
| XM_017004822.1:c.55520A>G (TTN) | XP_016860311.1:p.Lys18507Arg | |
| XM_017004823.1:c.37136A>G (TTN) | XP_016860312.1:p.Lys12379Arg | |
| XM_024453094.1:c.58631A>G (TTN) | XP_024308862.1:p.Lys19544Arg | |
| XM_024453095.1:c.58628A>G (TTN) | XP_024308863.1:p.Lys19543Arg | |
| XM_024453096.1:c.58061A>G (TTN) | XP_024308864.1:p.Lys19354Arg | |
| XM_024453097.1:c.55403A>G (TTN) | XP_024308865.1:p.Lys18468Arg | |
| XM_024453098.1:c.55322A>G (TTN) | XP_024308866.1:p.Lys18441Arg | |
| XM_024453099.1:c.37085A>G (TTN) | XP_024308867.1:p.Lys12362Arg | |
| XM_024453100.1:c.26939A>G (TTN) | XP_024308868.1:p.Lys8980Arg |