Revel Score:
ENST00000342992
0.463
ENST00000460472
0.463
ENST00000342175
0.463
ENST00000359218
0.463
ENST00000356127
0.463
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533065T>A , CM000664.2:g.178533065T>A | GRCh38 |
| NC_000002.11:g.179397792T>A , CM000664.1:g.179397792T>A | GRCh37 |
| NC_000002.10:g.179106038T>A | NCBI36 |
| NG_011618.3:g.302738A>T , LRG_391:g.302738A>T | |
| NG_051363.1:g.15239T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95846A>T (TTN) | ENSP00000343764.6:p.Lys31949Met | |
| ENST00000342175.11:c.76931A>T (TTN) | ENSP00000340554.6:p.Lys25644Met | |
| ENST00000359218.10:c.76730A>T (TTN) | ENSP00000352154.5:p.Lys25577Met | |
| ENST00000342175.10:c.76931A>T (TTN) | ENSP00000340554.6:p.Lys25644Met | |
| ENST00000342992.10:c.95846A>T (TTN) | ENSP00000343764.6:p.Lys31949Met | |
| ENST00000359218.9:c.76730A>T (TTN) | ENSP00000352154.5:p.Lys25577Met | |
| ENST00000460472.6:c.76355A>T (TTN) | ENSP00000434586.1:p.Lys25452Met | |
| ENST00000589042.5:c.103550A>T (TTN) MANE Select | ENSP00000467141.1:p.Lys34517Met | |
| ENST00000591111.5:c.98627A>T (TTN) | ENSP00000465570.1:p.Lys32876Met | |
| ENST00000615779.4:c.98627A>T (TTN) | ENSP00000483597.1:p.Lys32876Met | |
| NM_001256850.1:c.98627A>T (TTN) | NP_001243779.1:p.Lys32876Met | |
| NM_001267550.2:c.103550A>T (TTN) MANE Select | NP_001254479.2:p.Lys34517Met | |
| NM_003319.4:c.76355A>T (TTN) | NP_003310.4:p.Lys25452Met | |
| NM_133378.4:c.95846A>T (TTN) | NP_596869.4:p.Lys31949Met | |
| NM_133432.3:c.76730A>T (TTN) | NP_597676.3:p.Lys25577Met | |
| NM_133437.4:c.76931A>T (TTN) | NP_597681.4:p.Lys25644Met | |
| NR_038271.1:n.446+9429T>A (TTN-AS1) | ||
| NR_038272.1:n.220-2667T>A (TTN-AS1) | ||
| XM_011511729.1:c.102647A>T (TTN) | XP_011510031.1:p.Lys34216Met | |
| XM_011511730.1:c.76541A>T (TTN) | XP_011510032.1:p.Lys25514Met | |
| XM_011511731.1:c.76400A>T (TTN) | XP_011510033.1:p.Lys25467Met | |
| XM_017004819.1:c.102443A>T (TTN) | XP_016860308.1:p.Lys34148Met | |
| XM_017004820.1:c.97841A>T (TTN) | XP_016860309.1:p.Lys32614Met | |
| XM_017004821.1:c.97838A>T (TTN) | XP_016860310.1:p.Lys32613Met | |
| XM_017004822.1:c.94880A>T (TTN) | XP_016860311.1:p.Lys31627Met | |
| XM_017004823.1:c.76496A>T (TTN) | XP_016860312.1:p.Lys25499Met | |
| XM_024453094.1:c.97991A>T (TTN) | XP_024308862.1:p.Lys32664Met | |
| XM_024453095.1:c.97988A>T (TTN) | XP_024308863.1:p.Lys32663Met | |
| XM_024453096.1:c.97421A>T (TTN) | XP_024308864.1:p.Lys32474Met | |
| XM_024453097.1:c.94763A>T (TTN) | XP_024308865.1:p.Lys31588Met | |
| XM_024453098.1:c.94682A>T (TTN) | XP_024308866.1:p.Lys31561Met | |
| XM_024453099.1:c.76445A>T (TTN) | XP_024308867.1:p.Lys25482Met | |
| XM_024453100.1:c.66299A>T (TTN) | XP_024308868.1:p.Lys22100Met |