Revel Score:
ENST00000342992
0.395
ENST00000460472
0.395
ENST00000342175
0.395
ENST00000359218
0.395
ENST00000356127
0.395
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002321 (NFE)
Genomes Max Group AF
0.00001975 (NFE)
Exomes Max Group AF
0.00002123 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614745C>T , CM000664.2:g.178614745C>T | GRCh38 |
| NC_000002.11:g.179479472C>T , CM000664.1:g.179479472C>T | GRCh37 |
| NC_000002.10:g.179187717C>T | NCBI36 |
| NG_011618.3:g.221058G>A , LRG_391:g.221058G>A | |
| NG_051363.1:g.96919C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41065G>A (TTN) | ENSP00000343764.6:p.Glu13689Lys | |
| ENST00000342175.11:c.22150G>A (TTN) | ENSP00000340554.6:p.Glu7384Lys | |
| ENST00000359218.10:c.21949G>A (TTN) | ENSP00000352154.5:p.Glu7317Lys | |
| ENST00000342175.10:c.22150G>A (TTN) | ENSP00000340554.6:p.Glu7384Lys | |
| ENST00000342992.10:c.41065G>A (TTN) | ENSP00000343764.6:p.Glu13689Lys | |
| ENST00000359218.9:c.21949G>A (TTN) | ENSP00000352154.5:p.Glu7317Lys | |
| ENST00000460472.6:c.21574G>A (TTN) | ENSP00000434586.1:p.Glu7192Lys | |
| ENST00000589042.5:c.48769G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu16257Lys | |
| ENST00000591111.5:c.43846G>A (TTN) | ENSP00000465570.1:p.Glu14616Lys | |
| ENST00000615779.4:c.43846G>A (TTN) | ENSP00000483597.1:p.Glu14616Lys | |
| NM_001256850.1:c.43846G>A (TTN) | NP_001243779.1:p.Glu14616Lys | |
| NM_001267550.2:c.48769G>A (TTN) MANE Select | NP_001254479.2:p.Glu16257Lys | |
| NM_003319.4:c.21574G>A (TTN) | NP_003310.4:p.Glu7192Lys | |
| NM_133378.4:c.41065G>A (TTN) | NP_596869.4:p.Glu13689Lys | |
| NM_133432.3:c.21949G>A (TTN) | NP_597676.3:p.Glu7317Lys | |
| NM_133437.4:c.22150G>A (TTN) | NP_597681.4:p.Glu7384Lys | |
| NR_038271.1:n.1493C>T (TTN-AS1) | ||
| XM_011511729.1:c.47866G>A (TTN) | XP_011510031.1:p.Glu15956Lys | |
| XM_011511730.1:c.21760G>A (TTN) | XP_011510032.1:p.Glu7254Lys | |
| XM_011511731.1:c.21619G>A (TTN) | XP_011510033.1:p.Glu7207Lys | |
| XM_017004819.1:c.47662G>A (TTN) | XP_016860308.1:p.Glu15888Lys | |
| XM_017004820.1:c.43060G>A (TTN) | XP_016860309.1:p.Glu14354Lys | |
| XM_017004821.1:c.43057G>A (TTN) | XP_016860310.1:p.Glu14353Lys | |
| XM_017004822.1:c.40099G>A (TTN) | XP_016860311.1:p.Glu13367Lys | |
| XM_017004823.1:c.21715G>A (TTN) | XP_016860312.1:p.Glu7239Lys | |
| XM_024453094.1:c.43210G>A (TTN) | XP_024308862.1:p.Glu14404Lys | |
| XM_024453095.1:c.43207G>A (TTN) | XP_024308863.1:p.Glu14403Lys | |
| XM_024453096.1:c.42640G>A (TTN) | XP_024308864.1:p.Glu14214Lys | |
| XM_024453097.1:c.39982G>A (TTN) | XP_024308865.1:p.Glu13328Lys | |
| XM_024453098.1:c.39901G>A (TTN) | XP_024308866.1:p.Glu13301Lys | |
| XM_024453099.1:c.21664G>A (TTN) | XP_024308867.1:p.Glu7222Lys | |
| XM_024453100.1:c.11518G>A (TTN) | XP_024308868.1:p.Glu3840Lys |