Revel Score:
ENST00000342992
0.123
ENST00000460472
0.123
ENST00000342175
0.123
ENST00000359218
0.123
ENST00000356127
0.123
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607490T>A , CM000664.2:g.178607490T>A | GRCh38 |
| NC_000002.11:g.179472217T>A , CM000664.1:g.179472217T>A | GRCh37 |
| NC_000002.10:g.179180462T>A | NCBI36 |
| NG_011618.3:g.228313A>T , LRG_391:g.228313A>T | |
| NG_051363.1:g.89664T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45494A>T (TTN) | ENSP00000343764.6:p.Asp15165Val | |
| ENST00000342175.11:c.26579A>T (TTN) | ENSP00000340554.6:p.Asp8860Val | |
| ENST00000359218.10:c.26378A>T (TTN) | ENSP00000352154.5:p.Asp8793Val | |
| ENST00000342175.10:c.26579A>T (TTN) | ENSP00000340554.6:p.Asp8860Val | |
| ENST00000342992.10:c.45494A>T (TTN) | ENSP00000343764.6:p.Asp15165Val | |
| ENST00000359218.9:c.26378A>T (TTN) | ENSP00000352154.5:p.Asp8793Val | |
| ENST00000460472.6:c.26003A>T (TTN) | ENSP00000434586.1:p.Asp8668Val | |
| ENST00000589042.5:c.53198A>T (TTN) MANE Select | ENSP00000467141.1:p.Asp17733Val | |
| ENST00000591111.5:c.48275A>T (TTN) | ENSP00000465570.1:p.Asp16092Val | |
| ENST00000615779.4:c.48275A>T (TTN) | ENSP00000483597.1:p.Asp16092Val | |
| NM_001256850.1:c.48275A>T (TTN) | NP_001243779.1:p.Asp16092Val | |
| NM_001267550.2:c.53198A>T (TTN) MANE Select | NP_001254479.2:p.Asp17733Val | |
| NM_003319.4:c.26003A>T (TTN) | NP_003310.4:p.Asp8668Val | |
| NM_133378.4:c.45494A>T (TTN) | NP_596869.4:p.Asp15165Val | |
| NM_133432.3:c.26378A>T (TTN) | NP_597676.3:p.Asp8793Val | |
| NM_133437.4:c.26579A>T (TTN) | NP_597681.4:p.Asp8860Val | |
| NR_038271.1:n.683-677T>A (TTN-AS1) | ||
| XM_011511729.1:c.52295A>T (TTN) | XP_011510031.1:p.Asp17432Val | |
| XM_011511730.1:c.26189A>T (TTN) | XP_011510032.1:p.Asp8730Val | |
| XM_011511731.1:c.26048A>T (TTN) | XP_011510033.1:p.Asp8683Val | |
| XM_017004819.1:c.52091A>T (TTN) | XP_016860308.1:p.Asp17364Val | |
| XM_017004820.1:c.47489A>T (TTN) | XP_016860309.1:p.Asp15830Val | |
| XM_017004821.1:c.47486A>T (TTN) | XP_016860310.1:p.Asp15829Val | |
| XM_017004822.1:c.44528A>T (TTN) | XP_016860311.1:p.Asp14843Val | |
| XM_017004823.1:c.26144A>T (TTN) | XP_016860312.1:p.Asp8715Val | |
| XM_024453094.1:c.47639A>T (TTN) | XP_024308862.1:p.Asp15880Val | |
| XM_024453095.1:c.47636A>T (TTN) | XP_024308863.1:p.Asp15879Val | |
| XM_024453096.1:c.47069A>T (TTN) | XP_024308864.1:p.Asp15690Val | |
| XM_024453097.1:c.44411A>T (TTN) | XP_024308865.1:p.Asp14804Val | |
| XM_024453098.1:c.44330A>T (TTN) | XP_024308866.1:p.Asp14777Val | |
| XM_024453099.1:c.26093A>T (TTN) | XP_024308867.1:p.Asp8698Val | |
| XM_024453100.1:c.15947A>T (TTN) | XP_024308868.1:p.Asp5316Val |