Revel Score:
ENST00000342992
0.461
ENST00000460472
0.461
ENST00000342175
0.461
ENST00000359218
0.461
ENST00000356127
0.461
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614740G>C , CM000664.2:g.178614740G>C | GRCh38 |
| NC_000002.11:g.179479467G>C , CM000664.1:g.179479467G>C | GRCh37 |
| NC_000002.10:g.179187712G>C | NCBI36 |
| NG_011618.3:g.221063C>G , LRG_391:g.221063C>G | |
| NG_051363.1:g.96914G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41070C>G (TTN) | ENSP00000343764.6:p.Ile13690Met | |
| ENST00000342175.11:c.22155C>G (TTN) | ENSP00000340554.6:p.Ile7385Met | |
| ENST00000359218.10:c.21954C>G (TTN) | ENSP00000352154.5:p.Ile7318Met | |
| ENST00000342175.10:c.22155C>G (TTN) | ENSP00000340554.6:p.Ile7385Met | |
| ENST00000342992.10:c.41070C>G (TTN) | ENSP00000343764.6:p.Ile13690Met | |
| ENST00000359218.9:c.21954C>G (TTN) | ENSP00000352154.5:p.Ile7318Met | |
| ENST00000460472.6:c.21579C>G (TTN) | ENSP00000434586.1:p.Ile7193Met | |
| ENST00000589042.5:c.48774C>G (TTN) MANE Select | ENSP00000467141.1:p.Ile16258Met | |
| ENST00000591111.5:c.43851C>G (TTN) | ENSP00000465570.1:p.Ile14617Met | |
| ENST00000615779.4:c.43851C>G (TTN) | ENSP00000483597.1:p.Ile14617Met | |
| NM_001256850.1:c.43851C>G (TTN) | NP_001243779.1:p.Ile14617Met | |
| NM_001267550.2:c.48774C>G (TTN) MANE Select | NP_001254479.2:p.Ile16258Met | |
| NM_003319.4:c.21579C>G (TTN) | NP_003310.4:p.Ile7193Met | |
| NM_133378.4:c.41070C>G (TTN) | NP_596869.4:p.Ile13690Met | |
| NM_133432.3:c.21954C>G (TTN) | NP_597676.3:p.Ile7318Met | |
| NM_133437.4:c.22155C>G (TTN) | NP_597681.4:p.Ile7385Met | |
| NR_038271.1:n.1488G>C (TTN-AS1) | ||
| XM_011511729.1:c.47871C>G (TTN) | XP_011510031.1:p.Ile15957Met | |
| XM_011511730.1:c.21765C>G (TTN) | XP_011510032.1:p.Ile7255Met | |
| XM_011511731.1:c.21624C>G (TTN) | XP_011510033.1:p.Ile7208Met | |
| XM_017004819.1:c.47667C>G (TTN) | XP_016860308.1:p.Ile15889Met | |
| XM_017004820.1:c.43065C>G (TTN) | XP_016860309.1:p.Ile14355Met | |
| XM_017004821.1:c.43062C>G (TTN) | XP_016860310.1:p.Ile14354Met | |
| XM_017004822.1:c.40104C>G (TTN) | XP_016860311.1:p.Ile13368Met | |
| XM_017004823.1:c.21720C>G (TTN) | XP_016860312.1:p.Ile7240Met | |
| XM_024453094.1:c.43215C>G (TTN) | XP_024308862.1:p.Ile14405Met | |
| XM_024453095.1:c.43212C>G (TTN) | XP_024308863.1:p.Ile14404Met | |
| XM_024453096.1:c.42645C>G (TTN) | XP_024308864.1:p.Ile14215Met | |
| XM_024453097.1:c.39987C>G (TTN) | XP_024308865.1:p.Ile13329Met | |
| XM_024453098.1:c.39906C>G (TTN) | XP_024308866.1:p.Ile13302Met | |
| XM_024453099.1:c.21669C>G (TTN) | XP_024308867.1:p.Ile7223Met | |
| XM_024453100.1:c.11523C>G (TTN) | XP_024308868.1:p.Ile3841Met |