Revel Score:
ENST00000342992
0.485
ENST00000460472
0.485
ENST00000342175
0.485
ENST00000359218
0.485
ENST00000356127
0.485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614744T>A , CM000664.2:g.178614744T>A | GRCh38 |
| NC_000002.11:g.179479471T>A , CM000664.1:g.179479471T>A | GRCh37 |
| NC_000002.10:g.179187716T>A | NCBI36 |
| NG_011618.3:g.221059A>T , LRG_391:g.221059A>T | |
| NG_051363.1:g.96918T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41066A>T (TTN) | ENSP00000343764.6:p.Glu13689Val | |
| ENST00000342175.11:c.22151A>T (TTN) | ENSP00000340554.6:p.Glu7384Val | |
| ENST00000359218.10:c.21950A>T (TTN) | ENSP00000352154.5:p.Glu7317Val | |
| ENST00000342175.10:c.22151A>T (TTN) | ENSP00000340554.6:p.Glu7384Val | |
| ENST00000342992.10:c.41066A>T (TTN) | ENSP00000343764.6:p.Glu13689Val | |
| ENST00000359218.9:c.21950A>T (TTN) | ENSP00000352154.5:p.Glu7317Val | |
| ENST00000460472.6:c.21575A>T (TTN) | ENSP00000434586.1:p.Glu7192Val | |
| ENST00000589042.5:c.48770A>T (TTN) MANE Select | ENSP00000467141.1:p.Glu16257Val | |
| ENST00000591111.5:c.43847A>T (TTN) | ENSP00000465570.1:p.Glu14616Val | |
| ENST00000615779.4:c.43847A>T (TTN) | ENSP00000483597.1:p.Glu14616Val | |
| NM_001256850.1:c.43847A>T (TTN) | NP_001243779.1:p.Glu14616Val | |
| NM_001267550.2:c.48770A>T (TTN) MANE Select | NP_001254479.2:p.Glu16257Val | |
| NM_003319.4:c.21575A>T (TTN) | NP_003310.4:p.Glu7192Val | |
| NM_133378.4:c.41066A>T (TTN) | NP_596869.4:p.Glu13689Val | |
| NM_133432.3:c.21950A>T (TTN) | NP_597676.3:p.Glu7317Val | |
| NM_133437.4:c.22151A>T (TTN) | NP_597681.4:p.Glu7384Val | |
| NR_038271.1:n.1492T>A (TTN-AS1) | ||
| XM_011511729.1:c.47867A>T (TTN) | XP_011510031.1:p.Glu15956Val | |
| XM_011511730.1:c.21761A>T (TTN) | XP_011510032.1:p.Glu7254Val | |
| XM_011511731.1:c.21620A>T (TTN) | XP_011510033.1:p.Glu7207Val | |
| XM_017004819.1:c.47663A>T (TTN) | XP_016860308.1:p.Glu15888Val | |
| XM_017004820.1:c.43061A>T (TTN) | XP_016860309.1:p.Glu14354Val | |
| XM_017004821.1:c.43058A>T (TTN) | XP_016860310.1:p.Glu14353Val | |
| XM_017004822.1:c.40100A>T (TTN) | XP_016860311.1:p.Glu13367Val | |
| XM_017004823.1:c.21716A>T (TTN) | XP_016860312.1:p.Glu7239Val | |
| XM_024453094.1:c.43211A>T (TTN) | XP_024308862.1:p.Glu14404Val | |
| XM_024453095.1:c.43208A>T (TTN) | XP_024308863.1:p.Glu14403Val | |
| XM_024453096.1:c.42641A>T (TTN) | XP_024308864.1:p.Glu14214Val | |
| XM_024453097.1:c.39983A>T (TTN) | XP_024308865.1:p.Glu13328Val | |
| XM_024453098.1:c.39902A>T (TTN) | XP_024308866.1:p.Glu13301Val | |
| XM_024453099.1:c.21665A>T (TTN) | XP_024308867.1:p.Glu7222Val | |
| XM_024453100.1:c.11519A>T (TTN) | XP_024308868.1:p.Glu3840Val |