Revel Score:
ENST00000342992
0.061
ENST00000460472
0.061
ENST00000342175
0.061
ENST00000359218
0.061
ENST00000356127
0.061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614554A>T , CM000664.2:g.178614554A>T | GRCh38 |
| NC_000002.11:g.179479281A>T , CM000664.1:g.179479281A>T | GRCh37 |
| NC_000002.10:g.179187526A>T | NCBI36 |
| NG_011618.3:g.221249T>A , LRG_391:g.221249T>A | |
| NG_051363.1:g.96728A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41256T>A (TTN) | ENSP00000343764.6:p.Asp13752Glu | |
| ENST00000342175.11:c.22341T>A (TTN) | ENSP00000340554.6:p.Asp7447Glu | |
| ENST00000359218.10:c.22140T>A (TTN) | ENSP00000352154.5:p.Asp7380Glu | |
| ENST00000342175.10:c.22341T>A (TTN) | ENSP00000340554.6:p.Asp7447Glu | |
| ENST00000342992.10:c.41256T>A (TTN) | ENSP00000343764.6:p.Asp13752Glu | |
| ENST00000359218.9:c.22140T>A (TTN) | ENSP00000352154.5:p.Asp7380Glu | |
| ENST00000460472.6:c.21765T>A (TTN) | ENSP00000434586.1:p.Asp7255Glu | |
| ENST00000589042.5:c.48960T>A (TTN) MANE Select | ENSP00000467141.1:p.Asp16320Glu | |
| ENST00000591111.5:c.44037T>A (TTN) | ENSP00000465570.1:p.Asp14679Glu | |
| ENST00000615779.4:c.44037T>A (TTN) | ENSP00000483597.1:p.Asp14679Glu | |
| NM_001256850.1:c.44037T>A (TTN) | NP_001243779.1:p.Asp14679Glu | |
| NM_001267550.2:c.48960T>A (TTN) MANE Select | NP_001254479.2:p.Asp16320Glu | |
| NM_003319.4:c.21765T>A (TTN) | NP_003310.4:p.Asp7255Glu | |
| NM_133378.4:c.41256T>A (TTN) | NP_596869.4:p.Asp13752Glu | |
| NM_133432.3:c.22140T>A (TTN) | NP_597676.3:p.Asp7380Glu | |
| NM_133437.4:c.22341T>A (TTN) | NP_597681.4:p.Asp7447Glu | |
| NR_038271.1:n.1302A>T (TTN-AS1) | ||
| XM_011511729.1:c.48057T>A (TTN) | XP_011510031.1:p.Asp16019Glu | |
| XM_011511730.1:c.21951T>A (TTN) | XP_011510032.1:p.Asp7317Glu | |
| XM_011511731.1:c.21810T>A (TTN) | XP_011510033.1:p.Asp7270Glu | |
| XM_017004819.1:c.47853T>A (TTN) | XP_016860308.1:p.Asp15951Glu | |
| XM_017004820.1:c.43251T>A (TTN) | XP_016860309.1:p.Asp14417Glu | |
| XM_017004821.1:c.43248T>A (TTN) | XP_016860310.1:p.Asp14416Glu | |
| XM_017004822.1:c.40290T>A (TTN) | XP_016860311.1:p.Asp13430Glu | |
| XM_017004823.1:c.21906T>A (TTN) | XP_016860312.1:p.Asp7302Glu | |
| XM_024453094.1:c.43401T>A (TTN) | XP_024308862.1:p.Asp14467Glu | |
| XM_024453095.1:c.43398T>A (TTN) | XP_024308863.1:p.Asp14466Glu | |
| XM_024453096.1:c.42831T>A (TTN) | XP_024308864.1:p.Asp14277Glu | |
| XM_024453097.1:c.40173T>A (TTN) | XP_024308865.1:p.Asp13391Glu | |
| XM_024453098.1:c.40092T>A (TTN) | XP_024308866.1:p.Asp13364Glu | |
| XM_024453099.1:c.21855T>A (TTN) | XP_024308867.1:p.Asp7285Glu | |
| XM_024453100.1:c.11709T>A (TTN) | XP_024308868.1:p.Asp3903Glu |