Revel Score:
ENST00000342992
0.639
ENST00000460472
0.639
ENST00000342175
0.639
ENST00000359218
0.639
ENST00000356127
0.639
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614535C>A , CM000664.2:g.178614535C>A | GRCh38 |
| NC_000002.11:g.179479262C>A , CM000664.1:g.179479262C>A | GRCh37 |
| NC_000002.10:g.179187507C>A | NCBI36 |
| NG_011618.3:g.221268G>T , LRG_391:g.221268G>T | |
| NG_051363.1:g.96709C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41275G>T (TTN) | ENSP00000343764.6:p.Gly13759Cys | |
| ENST00000342175.11:c.22360G>T (TTN) | ENSP00000340554.6:p.Gly7454Cys | |
| ENST00000359218.10:c.22159G>T (TTN) | ENSP00000352154.5:p.Gly7387Cys | |
| ENST00000342175.10:c.22360G>T (TTN) | ENSP00000340554.6:p.Gly7454Cys | |
| ENST00000342992.10:c.41275G>T (TTN) | ENSP00000343764.6:p.Gly13759Cys | |
| ENST00000359218.9:c.22159G>T (TTN) | ENSP00000352154.5:p.Gly7387Cys | |
| ENST00000460472.6:c.21784G>T (TTN) | ENSP00000434586.1:p.Gly7262Cys | |
| ENST00000589042.5:c.48979G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly16327Cys | |
| ENST00000591111.5:c.44056G>T (TTN) | ENSP00000465570.1:p.Gly14686Cys | |
| ENST00000615779.4:c.44056G>T (TTN) | ENSP00000483597.1:p.Gly14686Cys | |
| NM_001256850.1:c.44056G>T (TTN) | NP_001243779.1:p.Gly14686Cys | |
| NM_001267550.2:c.48979G>T (TTN) MANE Select | NP_001254479.2:p.Gly16327Cys | |
| NM_003319.4:c.21784G>T (TTN) | NP_003310.4:p.Gly7262Cys | |
| NM_133378.4:c.41275G>T (TTN) | NP_596869.4:p.Gly13759Cys | |
| NM_133432.3:c.22159G>T (TTN) | NP_597676.3:p.Gly7387Cys | |
| NM_133437.4:c.22360G>T (TTN) | NP_597681.4:p.Gly7454Cys | |
| NR_038271.1:n.1283C>A (TTN-AS1) | ||
| XM_011511729.1:c.48076G>T (TTN) | XP_011510031.1:p.Gly16026Cys | |
| XM_011511730.1:c.21970G>T (TTN) | XP_011510032.1:p.Gly7324Cys | |
| XM_011511731.1:c.21829G>T (TTN) | XP_011510033.1:p.Gly7277Cys | |
| XM_017004819.1:c.47872G>T (TTN) | XP_016860308.1:p.Gly15958Cys | |
| XM_017004820.1:c.43270G>T (TTN) | XP_016860309.1:p.Gly14424Cys | |
| XM_017004821.1:c.43267G>T (TTN) | XP_016860310.1:p.Gly14423Cys | |
| XM_017004822.1:c.40309G>T (TTN) | XP_016860311.1:p.Gly13437Cys | |
| XM_017004823.1:c.21925G>T (TTN) | XP_016860312.1:p.Gly7309Cys | |
| XM_024453094.1:c.43420G>T (TTN) | XP_024308862.1:p.Gly14474Cys | |
| XM_024453095.1:c.43417G>T (TTN) | XP_024308863.1:p.Gly14473Cys | |
| XM_024453096.1:c.42850G>T (TTN) | XP_024308864.1:p.Gly14284Cys | |
| XM_024453097.1:c.40192G>T (TTN) | XP_024308865.1:p.Gly13398Cys | |
| XM_024453098.1:c.40111G>T (TTN) | XP_024308866.1:p.Gly13371Cys | |
| XM_024453099.1:c.21874G>T (TTN) | XP_024308867.1:p.Gly7292Cys | |
| XM_024453100.1:c.11728G>T (TTN) | XP_024308868.1:p.Gly3910Cys |