Revel Score:
ENST00000342992
0.382
ENST00000460472
0.382
ENST00000342175
0.382
ENST00000359218
0.382
ENST00000356127
0.382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614631C>G , CM000664.2:g.178614631C>G | GRCh38 |
| NC_000002.11:g.179479358C>G , CM000664.1:g.179479358C>G | GRCh37 |
| NC_000002.10:g.179187603C>G | NCBI36 |
| NG_011618.3:g.221172G>C , LRG_391:g.221172G>C | |
| NG_051363.1:g.96805C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41179G>C (TTN) | ENSP00000343764.6:p.Ala13727Pro | |
| ENST00000342175.11:c.22264G>C (TTN) | ENSP00000340554.6:p.Ala7422Pro | |
| ENST00000359218.10:c.22063G>C (TTN) | ENSP00000352154.5:p.Ala7355Pro | |
| ENST00000342175.10:c.22264G>C (TTN) | ENSP00000340554.6:p.Ala7422Pro | |
| ENST00000342992.10:c.41179G>C (TTN) | ENSP00000343764.6:p.Ala13727Pro | |
| ENST00000359218.9:c.22063G>C (TTN) | ENSP00000352154.5:p.Ala7355Pro | |
| ENST00000460472.6:c.21688G>C (TTN) | ENSP00000434586.1:p.Ala7230Pro | |
| ENST00000589042.5:c.48883G>C (TTN) MANE Select | ENSP00000467141.1:p.Ala16295Pro | |
| ENST00000591111.5:c.43960G>C (TTN) | ENSP00000465570.1:p.Ala14654Pro | |
| ENST00000615779.4:c.43960G>C (TTN) | ENSP00000483597.1:p.Ala14654Pro | |
| NM_001256850.1:c.43960G>C (TTN) | NP_001243779.1:p.Ala14654Pro | |
| NM_001267550.2:c.48883G>C (TTN) MANE Select | NP_001254479.2:p.Ala16295Pro | |
| NM_003319.4:c.21688G>C (TTN) | NP_003310.4:p.Ala7230Pro | |
| NM_133378.4:c.41179G>C (TTN) | NP_596869.4:p.Ala13727Pro | |
| NM_133432.3:c.22063G>C (TTN) | NP_597676.3:p.Ala7355Pro | |
| NM_133437.4:c.22264G>C (TTN) | NP_597681.4:p.Ala7422Pro | |
| NR_038271.1:n.1379C>G (TTN-AS1) | ||
| XM_011511729.1:c.47980G>C (TTN) | XP_011510031.1:p.Ala15994Pro | |
| XM_011511730.1:c.21874G>C (TTN) | XP_011510032.1:p.Ala7292Pro | |
| XM_011511731.1:c.21733G>C (TTN) | XP_011510033.1:p.Ala7245Pro | |
| XM_017004819.1:c.47776G>C (TTN) | XP_016860308.1:p.Ala15926Pro | |
| XM_017004820.1:c.43174G>C (TTN) | XP_016860309.1:p.Ala14392Pro | |
| XM_017004821.1:c.43171G>C (TTN) | XP_016860310.1:p.Ala14391Pro | |
| XM_017004822.1:c.40213G>C (TTN) | XP_016860311.1:p.Ala13405Pro | |
| XM_017004823.1:c.21829G>C (TTN) | XP_016860312.1:p.Ala7277Pro | |
| XM_024453094.1:c.43324G>C (TTN) | XP_024308862.1:p.Ala14442Pro | |
| XM_024453095.1:c.43321G>C (TTN) | XP_024308863.1:p.Ala14441Pro | |
| XM_024453096.1:c.42754G>C (TTN) | XP_024308864.1:p.Ala14252Pro | |
| XM_024453097.1:c.40096G>C (TTN) | XP_024308865.1:p.Ala13366Pro | |
| XM_024453098.1:c.40015G>C (TTN) | XP_024308866.1:p.Ala13339Pro | |
| XM_024453099.1:c.21778G>C (TTN) | XP_024308867.1:p.Ala7260Pro | |
| XM_024453100.1:c.11632G>C (TTN) | XP_024308868.1:p.Ala3878Pro |