Revel Score:
ENST00000342992
0.322
ENST00000460472
0.322
ENST00000342175
0.322
ENST00000359218
0.322
ENST00000356127
0.322
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531292G>T , CM000664.2:g.178531292G>T | GRCh38 |
| NC_000002.11:g.179396019G>T , CM000664.1:g.179396019G>T | GRCh37 |
| NC_000002.10:g.179104265G>T | NCBI36 |
| NG_011618.3:g.304511C>A , LRG_391:g.304511C>A | |
| NG_051363.1:g.13466G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97619C>A (TTN) | ENSP00000343764.6:p.Ala32540Glu | |
| ENST00000342175.11:c.78704C>A (TTN) | ENSP00000340554.6:p.Ala26235Glu | |
| ENST00000359218.10:c.78503C>A (TTN) | ENSP00000352154.5:p.Ala26168Glu | |
| ENST00000342175.10:c.78704C>A (TTN) | ENSP00000340554.6:p.Ala26235Glu | |
| ENST00000342992.10:c.97619C>A (TTN) | ENSP00000343764.6:p.Ala32540Glu | |
| ENST00000359218.9:c.78503C>A (TTN) | ENSP00000352154.5:p.Ala26168Glu | |
| ENST00000460472.6:c.78128C>A (TTN) | ENSP00000434586.1:p.Ala26043Glu | |
| ENST00000589042.5:c.105323C>A (TTN) MANE Select | ENSP00000467141.1:p.Ala35108Glu | |
| ENST00000591111.5:c.100400C>A (TTN) | ENSP00000465570.1:p.Ala33467Glu | |
| ENST00000615779.4:c.100400C>A (TTN) | ENSP00000483597.1:p.Ala33467Glu | |
| NM_001256850.1:c.100400C>A (TTN) | NP_001243779.1:p.Ala33467Glu | |
| NM_001267550.2:c.105323C>A (TTN) MANE Select | NP_001254479.2:p.Ala35108Glu | |
| NM_003319.4:c.78128C>A (TTN) | NP_003310.4:p.Ala26043Glu | |
| NM_133378.4:c.97619C>A (TTN) | NP_596869.4:p.Ala32540Glu | |
| NM_133432.3:c.78503C>A (TTN) | NP_597676.3:p.Ala26168Glu | |
| NM_133437.4:c.78704C>A (TTN) | NP_597681.4:p.Ala26235Glu | |
| NR_038271.1:n.446+7656G>T (TTN-AS1) | ||
| NR_038272.1:n.220-4440G>T (TTN-AS1) | ||
| XM_011511729.1:c.104420C>A (TTN) | XP_011510031.1:p.Ala34807Glu | |
| XM_011511730.1:c.78314C>A (TTN) | XP_011510032.1:p.Ala26105Glu | |
| XM_011511731.1:c.78173C>A (TTN) | XP_011510033.1:p.Ala26058Glu | |
| XM_017004819.1:c.104216C>A (TTN) | XP_016860308.1:p.Ala34739Glu | |
| XM_017004820.1:c.99614C>A (TTN) | XP_016860309.1:p.Ala33205Glu | |
| XM_017004821.1:c.99611C>A (TTN) | XP_016860310.1:p.Ala33204Glu | |
| XM_017004822.1:c.96653C>A (TTN) | XP_016860311.1:p.Ala32218Glu | |
| XM_017004823.1:c.78269C>A (TTN) | XP_016860312.1:p.Ala26090Glu | |
| XM_024453094.1:c.99764C>A (TTN) | XP_024308862.1:p.Ala33255Glu | |
| XM_024453095.1:c.99761C>A (TTN) | XP_024308863.1:p.Ala33254Glu | |
| XM_024453096.1:c.99194C>A (TTN) | XP_024308864.1:p.Ala33065Glu | |
| XM_024453097.1:c.96536C>A (TTN) | XP_024308865.1:p.Ala32179Glu | |
| XM_024453098.1:c.96455C>A (TTN) | XP_024308866.1:p.Ala32152Glu | |
| XM_024453099.1:c.78218C>A (TTN) | XP_024308867.1:p.Ala26073Glu | |
| XM_024453100.1:c.68072C>A (TTN) | XP_024308868.1:p.Ala22691Glu |