Revel Score:
ENST00000342992
0.178
ENST00000460472
0.178
ENST00000342175
0.178
ENST00000359218
0.178
ENST00000356127
0.178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607484A>T , CM000664.2:g.178607484A>T | GRCh38 |
| NC_000002.11:g.179472211A>T , CM000664.1:g.179472211A>T | GRCh37 |
| NC_000002.10:g.179180456A>T | NCBI36 |
| NG_011618.3:g.228319T>A , LRG_391:g.228319T>A | |
| NG_051363.1:g.89658A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45500T>A (TTN) | ENSP00000343764.6:p.Leu15167Gln | |
| ENST00000342175.11:c.26585T>A (TTN) | ENSP00000340554.6:p.Leu8862Gln | |
| ENST00000359218.10:c.26384T>A (TTN) | ENSP00000352154.5:p.Leu8795Gln | |
| ENST00000342175.10:c.26585T>A (TTN) | ENSP00000340554.6:p.Leu8862Gln | |
| ENST00000342992.10:c.45500T>A (TTN) | ENSP00000343764.6:p.Leu15167Gln | |
| ENST00000359218.9:c.26384T>A (TTN) | ENSP00000352154.5:p.Leu8795Gln | |
| ENST00000460472.6:c.26009T>A (TTN) | ENSP00000434586.1:p.Leu8670Gln | |
| ENST00000589042.5:c.53204T>A (TTN) MANE Select | ENSP00000467141.1:p.Leu17735Gln | |
| ENST00000591111.5:c.48281T>A (TTN) | ENSP00000465570.1:p.Leu16094Gln | |
| ENST00000615779.4:c.48281T>A (TTN) | ENSP00000483597.1:p.Leu16094Gln | |
| NM_001256850.1:c.48281T>A (TTN) | NP_001243779.1:p.Leu16094Gln | |
| NM_001267550.2:c.53204T>A (TTN) MANE Select | NP_001254479.2:p.Leu17735Gln | |
| NM_003319.4:c.26009T>A (TTN) | NP_003310.4:p.Leu8670Gln | |
| NM_133378.4:c.45500T>A (TTN) | NP_596869.4:p.Leu15167Gln | |
| NM_133432.3:c.26384T>A (TTN) | NP_597676.3:p.Leu8795Gln | |
| NM_133437.4:c.26585T>A (TTN) | NP_597681.4:p.Leu8862Gln | |
| NR_038271.1:n.683-683A>T (TTN-AS1) | ||
| XM_011511729.1:c.52301T>A (TTN) | XP_011510031.1:p.Leu17434Gln | |
| XM_011511730.1:c.26195T>A (TTN) | XP_011510032.1:p.Leu8732Gln | |
| XM_011511731.1:c.26054T>A (TTN) | XP_011510033.1:p.Leu8685Gln | |
| XM_017004819.1:c.52097T>A (TTN) | XP_016860308.1:p.Leu17366Gln | |
| XM_017004820.1:c.47495T>A (TTN) | XP_016860309.1:p.Leu15832Gln | |
| XM_017004821.1:c.47492T>A (TTN) | XP_016860310.1:p.Leu15831Gln | |
| XM_017004822.1:c.44534T>A (TTN) | XP_016860311.1:p.Leu14845Gln | |
| XM_017004823.1:c.26150T>A (TTN) | XP_016860312.1:p.Leu8717Gln | |
| XM_024453094.1:c.47645T>A (TTN) | XP_024308862.1:p.Leu15882Gln | |
| XM_024453095.1:c.47642T>A (TTN) | XP_024308863.1:p.Leu15881Gln | |
| XM_024453096.1:c.47075T>A (TTN) | XP_024308864.1:p.Leu15692Gln | |
| XM_024453097.1:c.44417T>A (TTN) | XP_024308865.1:p.Leu14806Gln | |
| XM_024453098.1:c.44336T>A (TTN) | XP_024308866.1:p.Leu14779Gln | |
| XM_024453099.1:c.26099T>A (TTN) | XP_024308867.1:p.Leu8700Gln | |
| XM_024453100.1:c.15953T>A (TTN) | XP_024308868.1:p.Leu5318Gln |