Revel Score:
ENST00000342992
0.603
ENST00000460472
0.603
ENST00000342175
0.603
ENST00000359218
0.603
ENST00000356127
0.603
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614741A>C , CM000664.2:g.178614741A>C | GRCh38 |
| NC_000002.11:g.179479468A>C , CM000664.1:g.179479468A>C | GRCh37 |
| NC_000002.10:g.179187713A>C | NCBI36 |
| NG_011618.3:g.221062T>G , LRG_391:g.221062T>G | |
| NG_051363.1:g.96915A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41069T>G (TTN) | ENSP00000343764.6:p.Ile13690Ser | |
| ENST00000342175.11:c.22154T>G (TTN) | ENSP00000340554.6:p.Ile7385Ser | |
| ENST00000359218.10:c.21953T>G (TTN) | ENSP00000352154.5:p.Ile7318Ser | |
| ENST00000342175.10:c.22154T>G (TTN) | ENSP00000340554.6:p.Ile7385Ser | |
| ENST00000342992.10:c.41069T>G (TTN) | ENSP00000343764.6:p.Ile13690Ser | |
| ENST00000359218.9:c.21953T>G (TTN) | ENSP00000352154.5:p.Ile7318Ser | |
| ENST00000460472.6:c.21578T>G (TTN) | ENSP00000434586.1:p.Ile7193Ser | |
| ENST00000589042.5:c.48773T>G (TTN) MANE Select | ENSP00000467141.1:p.Ile16258Ser | |
| ENST00000591111.5:c.43850T>G (TTN) | ENSP00000465570.1:p.Ile14617Ser | |
| ENST00000615779.4:c.43850T>G (TTN) | ENSP00000483597.1:p.Ile14617Ser | |
| NM_001256850.1:c.43850T>G (TTN) | NP_001243779.1:p.Ile14617Ser | |
| NM_001267550.2:c.48773T>G (TTN) MANE Select | NP_001254479.2:p.Ile16258Ser | |
| NM_003319.4:c.21578T>G (TTN) | NP_003310.4:p.Ile7193Ser | |
| NM_133378.4:c.41069T>G (TTN) | NP_596869.4:p.Ile13690Ser | |
| NM_133432.3:c.21953T>G (TTN) | NP_597676.3:p.Ile7318Ser | |
| NM_133437.4:c.22154T>G (TTN) | NP_597681.4:p.Ile7385Ser | |
| NR_038271.1:n.1489A>C (TTN-AS1) | ||
| XM_011511729.1:c.47870T>G (TTN) | XP_011510031.1:p.Ile15957Ser | |
| XM_011511730.1:c.21764T>G (TTN) | XP_011510032.1:p.Ile7255Ser | |
| XM_011511731.1:c.21623T>G (TTN) | XP_011510033.1:p.Ile7208Ser | |
| XM_017004819.1:c.47666T>G (TTN) | XP_016860308.1:p.Ile15889Ser | |
| XM_017004820.1:c.43064T>G (TTN) | XP_016860309.1:p.Ile14355Ser | |
| XM_017004821.1:c.43061T>G (TTN) | XP_016860310.1:p.Ile14354Ser | |
| XM_017004822.1:c.40103T>G (TTN) | XP_016860311.1:p.Ile13368Ser | |
| XM_017004823.1:c.21719T>G (TTN) | XP_016860312.1:p.Ile7240Ser | |
| XM_024453094.1:c.43214T>G (TTN) | XP_024308862.1:p.Ile14405Ser | |
| XM_024453095.1:c.43211T>G (TTN) | XP_024308863.1:p.Ile14404Ser | |
| XM_024453096.1:c.42644T>G (TTN) | XP_024308864.1:p.Ile14215Ser | |
| XM_024453097.1:c.39986T>G (TTN) | XP_024308865.1:p.Ile13329Ser | |
| XM_024453098.1:c.39905T>G (TTN) | XP_024308866.1:p.Ile13302Ser | |
| XM_024453099.1:c.21668T>G (TTN) | XP_024308867.1:p.Ile7223Ser | |
| XM_024453100.1:c.11522T>G (TTN) | XP_024308868.1:p.Ile3841Ser |