Revel Score:
ENST00000342992
0.333
ENST00000460472
0.333
ENST00000342175
0.333
ENST00000359218
0.333
ENST00000356127
0.333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586607T>G , CM000664.2:g.178586607T>G | GRCh38 |
| NC_000002.11:g.179451334T>G , CM000664.1:g.179451334T>G | GRCh37 |
| NC_000002.10:g.179159580T>G | NCBI36 |
| NG_011618.3:g.249196A>C , LRG_391:g.249196A>C | |
| NG_051363.1:g.68781T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56590A>C (TTN) | ENSP00000343764.6:p.Lys18864Gln | |
| ENST00000342175.11:c.37675A>C (TTN) | ENSP00000340554.6:p.Lys12559Gln | |
| ENST00000359218.10:c.37474A>C (TTN) | ENSP00000352154.5:p.Lys12492Gln | |
| ENST00000342175.10:c.37675A>C (TTN) | ENSP00000340554.6:p.Lys12559Gln | |
| ENST00000342992.10:c.56590A>C (TTN) | ENSP00000343764.6:p.Lys18864Gln | |
| ENST00000359218.9:c.37474A>C (TTN) | ENSP00000352154.5:p.Lys12492Gln | |
| ENST00000460472.6:c.37099A>C (TTN) | ENSP00000434586.1:p.Lys12367Gln | |
| ENST00000589042.5:c.64294A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys21432Gln | |
| ENST00000591111.5:c.59371A>C (TTN) | ENSP00000465570.1:p.Lys19791Gln | |
| ENST00000615779.4:c.59371A>C (TTN) | ENSP00000483597.1:p.Lys19791Gln | |
| NM_001256850.1:c.59371A>C (TTN) | NP_001243779.1:p.Lys19791Gln | |
| NM_001267550.2:c.64294A>C (TTN) MANE Select | NP_001254479.2:p.Lys21432Gln | |
| NM_003319.4:c.37099A>C (TTN) | NP_003310.4:p.Lys12367Gln | |
| NM_133378.4:c.56590A>C (TTN) | NP_596869.4:p.Lys18864Gln | |
| NM_133432.3:c.37474A>C (TTN) | NP_597676.3:p.Lys12492Gln | |
| NM_133437.4:c.37675A>C (TTN) | NP_597681.4:p.Lys12559Gln | |
| NR_038271.1:n.597-10989T>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1614T>G (TTN-AS1) | ||
| XM_011511729.1:c.63391A>C (TTN) | XP_011510031.1:p.Lys21131Gln | |
| XM_011511730.1:c.37285A>C (TTN) | XP_011510032.1:p.Lys12429Gln | |
| XM_011511731.1:c.37144A>C (TTN) | XP_011510033.1:p.Lys12382Gln | |
| XM_017004819.1:c.63187A>C (TTN) | XP_016860308.1:p.Lys21063Gln | |
| XM_017004820.1:c.58585A>C (TTN) | XP_016860309.1:p.Lys19529Gln | |
| XM_017004821.1:c.58582A>C (TTN) | XP_016860310.1:p.Lys19528Gln | |
| XM_017004822.1:c.55624A>C (TTN) | XP_016860311.1:p.Lys18542Gln | |
| XM_017004823.1:c.37240A>C (TTN) | XP_016860312.1:p.Lys12414Gln | |
| XM_024453094.1:c.58735A>C (TTN) | XP_024308862.1:p.Lys19579Gln | |
| XM_024453095.1:c.58732A>C (TTN) | XP_024308863.1:p.Lys19578Gln | |
| XM_024453096.1:c.58165A>C (TTN) | XP_024308864.1:p.Lys19389Gln | |
| XM_024453097.1:c.55507A>C (TTN) | XP_024308865.1:p.Lys18503Gln | |
| XM_024453098.1:c.55426A>C (TTN) | XP_024308866.1:p.Lys18476Gln | |
| XM_024453099.1:c.37189A>C (TTN) | XP_024308867.1:p.Lys12397Gln | |
| XM_024453100.1:c.27043A>C (TTN) | XP_024308868.1:p.Lys9015Gln |