Revel Score:
ENST00000342992
0.659
ENST00000460472
0.659
ENST00000342175
0.659
ENST00000359218
0.659
ENST00000356127
0.659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614534C>A , CM000664.2:g.178614534C>A | GRCh38 |
| NC_000002.11:g.179479261C>A , CM000664.1:g.179479261C>A | GRCh37 |
| NC_000002.10:g.179187506C>A | NCBI36 |
| NG_011618.3:g.221269G>T , LRG_391:g.221269G>T | |
| NG_051363.1:g.96708C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41276G>T (TTN) | ENSP00000343764.6:p.Gly13759Val | |
| ENST00000342175.11:c.22361G>T (TTN) | ENSP00000340554.6:p.Gly7454Val | |
| ENST00000359218.10:c.22160G>T (TTN) | ENSP00000352154.5:p.Gly7387Val | |
| ENST00000342175.10:c.22361G>T (TTN) | ENSP00000340554.6:p.Gly7454Val | |
| ENST00000342992.10:c.41276G>T (TTN) | ENSP00000343764.6:p.Gly13759Val | |
| ENST00000359218.9:c.22160G>T (TTN) | ENSP00000352154.5:p.Gly7387Val | |
| ENST00000460472.6:c.21785G>T (TTN) | ENSP00000434586.1:p.Gly7262Val | |
| ENST00000589042.5:c.48980G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly16327Val | |
| ENST00000591111.5:c.44057G>T (TTN) | ENSP00000465570.1:p.Gly14686Val | |
| ENST00000615779.4:c.44057G>T (TTN) | ENSP00000483597.1:p.Gly14686Val | |
| NM_001256850.1:c.44057G>T (TTN) | NP_001243779.1:p.Gly14686Val | |
| NM_001267550.2:c.48980G>T (TTN) MANE Select | NP_001254479.2:p.Gly16327Val | |
| NM_003319.4:c.21785G>T (TTN) | NP_003310.4:p.Gly7262Val | |
| NM_133378.4:c.41276G>T (TTN) | NP_596869.4:p.Gly13759Val | |
| NM_133432.3:c.22160G>T (TTN) | NP_597676.3:p.Gly7387Val | |
| NM_133437.4:c.22361G>T (TTN) | NP_597681.4:p.Gly7454Val | |
| NR_038271.1:n.1282C>A (TTN-AS1) | ||
| XM_011511729.1:c.48077G>T (TTN) | XP_011510031.1:p.Gly16026Val | |
| XM_011511730.1:c.21971G>T (TTN) | XP_011510032.1:p.Gly7324Val | |
| XM_011511731.1:c.21830G>T (TTN) | XP_011510033.1:p.Gly7277Val | |
| XM_017004819.1:c.47873G>T (TTN) | XP_016860308.1:p.Gly15958Val | |
| XM_017004820.1:c.43271G>T (TTN) | XP_016860309.1:p.Gly14424Val | |
| XM_017004821.1:c.43268G>T (TTN) | XP_016860310.1:p.Gly14423Val | |
| XM_017004822.1:c.40310G>T (TTN) | XP_016860311.1:p.Gly13437Val | |
| XM_017004823.1:c.21926G>T (TTN) | XP_016860312.1:p.Gly7309Val | |
| XM_024453094.1:c.43421G>T (TTN) | XP_024308862.1:p.Gly14474Val | |
| XM_024453095.1:c.43418G>T (TTN) | XP_024308863.1:p.Gly14473Val | |
| XM_024453096.1:c.42851G>T (TTN) | XP_024308864.1:p.Gly14284Val | |
| XM_024453097.1:c.40193G>T (TTN) | XP_024308865.1:p.Gly13398Val | |
| XM_024453098.1:c.40112G>T (TTN) | XP_024308866.1:p.Gly13371Val | |
| XM_024453099.1:c.21875G>T (TTN) | XP_024308867.1:p.Gly7292Val | |
| XM_024453100.1:c.11729G>T (TTN) | XP_024308868.1:p.Gly3910Val |