Revel Score:
ENST00000342992
0.788
ENST00000460472
0.788
ENST00000342175
0.788
ENST00000359218
0.788
ENST00000356127
0.788
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614541C>G , CM000664.2:g.178614541C>G | GRCh38 |
| NC_000002.11:g.179479268C>G , CM000664.1:g.179479268C>G | GRCh37 |
| NC_000002.10:g.179187513C>G | NCBI36 |
| NG_011618.3:g.221262G>C , LRG_391:g.221262G>C | |
| NG_051363.1:g.96715C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41269G>C (TTN) | ENSP00000343764.6:p.Asp13757His | |
| ENST00000342175.11:c.22354G>C (TTN) | ENSP00000340554.6:p.Asp7452His | |
| ENST00000359218.10:c.22153G>C (TTN) | ENSP00000352154.5:p.Asp7385His | |
| ENST00000342175.10:c.22354G>C (TTN) | ENSP00000340554.6:p.Asp7452His | |
| ENST00000342992.10:c.41269G>C (TTN) | ENSP00000343764.6:p.Asp13757His | |
| ENST00000359218.9:c.22153G>C (TTN) | ENSP00000352154.5:p.Asp7385His | |
| ENST00000460472.6:c.21778G>C (TTN) | ENSP00000434586.1:p.Asp7260His | |
| ENST00000589042.5:c.48973G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp16325His | |
| ENST00000591111.5:c.44050G>C (TTN) | ENSP00000465570.1:p.Asp14684His | |
| ENST00000615779.4:c.44050G>C (TTN) | ENSP00000483597.1:p.Asp14684His | |
| NM_001256850.1:c.44050G>C (TTN) | NP_001243779.1:p.Asp14684His | |
| NM_001267550.2:c.48973G>C (TTN) MANE Select | NP_001254479.2:p.Asp16325His | |
| NM_003319.4:c.21778G>C (TTN) | NP_003310.4:p.Asp7260His | |
| NM_133378.4:c.41269G>C (TTN) | NP_596869.4:p.Asp13757His | |
| NM_133432.3:c.22153G>C (TTN) | NP_597676.3:p.Asp7385His | |
| NM_133437.4:c.22354G>C (TTN) | NP_597681.4:p.Asp7452His | |
| NR_038271.1:n.1289C>G (TTN-AS1) | ||
| XM_011511729.1:c.48070G>C (TTN) | XP_011510031.1:p.Asp16024His | |
| XM_011511730.1:c.21964G>C (TTN) | XP_011510032.1:p.Asp7322His | |
| XM_011511731.1:c.21823G>C (TTN) | XP_011510033.1:p.Asp7275His | |
| XM_017004819.1:c.47866G>C (TTN) | XP_016860308.1:p.Asp15956His | |
| XM_017004820.1:c.43264G>C (TTN) | XP_016860309.1:p.Asp14422His | |
| XM_017004821.1:c.43261G>C (TTN) | XP_016860310.1:p.Asp14421His | |
| XM_017004822.1:c.40303G>C (TTN) | XP_016860311.1:p.Asp13435His | |
| XM_017004823.1:c.21919G>C (TTN) | XP_016860312.1:p.Asp7307His | |
| XM_024453094.1:c.43414G>C (TTN) | XP_024308862.1:p.Asp14472His | |
| XM_024453095.1:c.43411G>C (TTN) | XP_024308863.1:p.Asp14471His | |
| XM_024453096.1:c.42844G>C (TTN) | XP_024308864.1:p.Asp14282His | |
| XM_024453097.1:c.40186G>C (TTN) | XP_024308865.1:p.Asp13396His | |
| XM_024453098.1:c.40105G>C (TTN) | XP_024308866.1:p.Asp13369His | |
| XM_024453099.1:c.21868G>C (TTN) | XP_024308867.1:p.Asp7290His | |
| XM_024453100.1:c.11722G>C (TTN) | XP_024308868.1:p.Asp3908His |