Revel Score:
ENST00000342992
0.437
ENST00000460472
0.437
ENST00000342175
0.437
ENST00000359218
0.437
ENST00000356127
0.437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586712T>G , CM000664.2:g.178586712T>G | GRCh38 |
| NC_000002.11:g.179451439T>G , CM000664.1:g.179451439T>G | GRCh37 |
| NC_000002.10:g.179159685T>G | NCBI36 |
| NG_011618.3:g.249091A>C , LRG_391:g.249091A>C | |
| NG_051363.1:g.68886T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56485A>C (TTN) | ENSP00000343764.6:p.Lys18829Gln | |
| ENST00000342175.11:c.37570A>C (TTN) | ENSP00000340554.6:p.Lys12524Gln | |
| ENST00000359218.10:c.37369A>C (TTN) | ENSP00000352154.5:p.Lys12457Gln | |
| ENST00000342175.10:c.37570A>C (TTN) | ENSP00000340554.6:p.Lys12524Gln | |
| ENST00000342992.10:c.56485A>C (TTN) | ENSP00000343764.6:p.Lys18829Gln | |
| ENST00000359218.9:c.37369A>C (TTN) | ENSP00000352154.5:p.Lys12457Gln | |
| ENST00000460472.6:c.36994A>C (TTN) | ENSP00000434586.1:p.Lys12332Gln | |
| ENST00000589042.5:c.64189A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys21397Gln | |
| ENST00000591111.5:c.59266A>C (TTN) | ENSP00000465570.1:p.Lys19756Gln | |
| ENST00000615779.4:c.59266A>C (TTN) | ENSP00000483597.1:p.Lys19756Gln | |
| NM_001256850.1:c.59266A>C (TTN) | NP_001243779.1:p.Lys19756Gln | |
| NM_001267550.2:c.64189A>C (TTN) MANE Select | NP_001254479.2:p.Lys21397Gln | |
| NM_003319.4:c.36994A>C (TTN) | NP_003310.4:p.Lys12332Gln | |
| NM_133378.4:c.56485A>C (TTN) | NP_596869.4:p.Lys18829Gln | |
| NM_133432.3:c.37369A>C (TTN) | NP_597676.3:p.Lys12457Gln | |
| NM_133437.4:c.37570A>C (TTN) | NP_597681.4:p.Lys12524Gln | |
| NR_038271.1:n.597-10884T>G (TTN-AS1) | ||
| NR_038272.1:n.3188+1719T>G (TTN-AS1) | ||
| XM_011511729.1:c.63286A>C (TTN) | XP_011510031.1:p.Lys21096Gln | |
| XM_011511730.1:c.37180A>C (TTN) | XP_011510032.1:p.Lys12394Gln | |
| XM_011511731.1:c.37039A>C (TTN) | XP_011510033.1:p.Lys12347Gln | |
| XM_017004819.1:c.63082A>C (TTN) | XP_016860308.1:p.Lys21028Gln | |
| XM_017004820.1:c.58480A>C (TTN) | XP_016860309.1:p.Lys19494Gln | |
| XM_017004821.1:c.58477A>C (TTN) | XP_016860310.1:p.Lys19493Gln | |
| XM_017004822.1:c.55519A>C (TTN) | XP_016860311.1:p.Lys18507Gln | |
| XM_017004823.1:c.37135A>C (TTN) | XP_016860312.1:p.Lys12379Gln | |
| XM_024453094.1:c.58630A>C (TTN) | XP_024308862.1:p.Lys19544Gln | |
| XM_024453095.1:c.58627A>C (TTN) | XP_024308863.1:p.Lys19543Gln | |
| XM_024453096.1:c.58060A>C (TTN) | XP_024308864.1:p.Lys19354Gln | |
| XM_024453097.1:c.55402A>C (TTN) | XP_024308865.1:p.Lys18468Gln | |
| XM_024453098.1:c.55321A>C (TTN) | XP_024308866.1:p.Lys18441Gln | |
| XM_024453099.1:c.37084A>C (TTN) | XP_024308867.1:p.Lys12362Gln | |
| XM_024453100.1:c.26938A>C (TTN) | XP_024308868.1:p.Lys8980Gln |