Revel Score:
ENST00000342992
0.079
ENST00000460472
0.079
ENST00000342175
0.079
ENST00000359218
0.079
ENST00000356127
0.079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607490T>G , CM000664.2:g.178607490T>G | GRCh38 |
| NC_000002.11:g.179472217T>G , CM000664.1:g.179472217T>G | GRCh37 |
| NC_000002.10:g.179180462T>G | NCBI36 |
| NG_011618.3:g.228313A>C , LRG_391:g.228313A>C | |
| NG_051363.1:g.89664T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45494A>C (TTN) | ENSP00000343764.6:p.Asp15165Ala | |
| ENST00000342175.11:c.26579A>C (TTN) | ENSP00000340554.6:p.Asp8860Ala | |
| ENST00000359218.10:c.26378A>C (TTN) | ENSP00000352154.5:p.Asp8793Ala | |
| ENST00000342175.10:c.26579A>C (TTN) | ENSP00000340554.6:p.Asp8860Ala | |
| ENST00000342992.10:c.45494A>C (TTN) | ENSP00000343764.6:p.Asp15165Ala | |
| ENST00000359218.9:c.26378A>C (TTN) | ENSP00000352154.5:p.Asp8793Ala | |
| ENST00000460472.6:c.26003A>C (TTN) | ENSP00000434586.1:p.Asp8668Ala | |
| ENST00000589042.5:c.53198A>C (TTN) MANE Select | ENSP00000467141.1:p.Asp17733Ala | |
| ENST00000591111.5:c.48275A>C (TTN) | ENSP00000465570.1:p.Asp16092Ala | |
| ENST00000615779.4:c.48275A>C (TTN) | ENSP00000483597.1:p.Asp16092Ala | |
| NM_001256850.1:c.48275A>C (TTN) | NP_001243779.1:p.Asp16092Ala | |
| NM_001267550.2:c.53198A>C (TTN) MANE Select | NP_001254479.2:p.Asp17733Ala | |
| NM_003319.4:c.26003A>C (TTN) | NP_003310.4:p.Asp8668Ala | |
| NM_133378.4:c.45494A>C (TTN) | NP_596869.4:p.Asp15165Ala | |
| NM_133432.3:c.26378A>C (TTN) | NP_597676.3:p.Asp8793Ala | |
| NM_133437.4:c.26579A>C (TTN) | NP_597681.4:p.Asp8860Ala | |
| NR_038271.1:n.683-677T>G (TTN-AS1) | ||
| XM_011511729.1:c.52295A>C (TTN) | XP_011510031.1:p.Asp17432Ala | |
| XM_011511730.1:c.26189A>C (TTN) | XP_011510032.1:p.Asp8730Ala | |
| XM_011511731.1:c.26048A>C (TTN) | XP_011510033.1:p.Asp8683Ala | |
| XM_017004819.1:c.52091A>C (TTN) | XP_016860308.1:p.Asp17364Ala | |
| XM_017004820.1:c.47489A>C (TTN) | XP_016860309.1:p.Asp15830Ala | |
| XM_017004821.1:c.47486A>C (TTN) | XP_016860310.1:p.Asp15829Ala | |
| XM_017004822.1:c.44528A>C (TTN) | XP_016860311.1:p.Asp14843Ala | |
| XM_017004823.1:c.26144A>C (TTN) | XP_016860312.1:p.Asp8715Ala | |
| XM_024453094.1:c.47639A>C (TTN) | XP_024308862.1:p.Asp15880Ala | |
| XM_024453095.1:c.47636A>C (TTN) | XP_024308863.1:p.Asp15879Ala | |
| XM_024453096.1:c.47069A>C (TTN) | XP_024308864.1:p.Asp15690Ala | |
| XM_024453097.1:c.44411A>C (TTN) | XP_024308865.1:p.Asp14804Ala | |
| XM_024453098.1:c.44330A>C (TTN) | XP_024308866.1:p.Asp14777Ala | |
| XM_024453099.1:c.26093A>C (TTN) | XP_024308867.1:p.Asp8698Ala | |
| XM_024453100.1:c.15947A>C (TTN) | XP_024308868.1:p.Asp5316Ala |