Revel Score:
ENST00000342992
0.185
ENST00000460472
0.185
ENST00000342175
0.185
ENST00000359218
0.185
ENST00000356127
0.185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614532T>C , CM000664.2:g.178614532T>C | GRCh38 |
| NC_000002.11:g.179479259T>C , CM000664.1:g.179479259T>C | GRCh37 |
| NC_000002.10:g.179187504T>C | NCBI36 |
| NG_011618.3:g.221271A>G , LRG_391:g.221271A>G | |
| NG_051363.1:g.96706T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41278A>G (TTN) | ENSP00000343764.6:p.Thr13760Ala | |
| ENST00000342175.11:c.22363A>G (TTN) | ENSP00000340554.6:p.Thr7455Ala | |
| ENST00000359218.10:c.22162A>G (TTN) | ENSP00000352154.5:p.Thr7388Ala | |
| ENST00000342175.10:c.22363A>G (TTN) | ENSP00000340554.6:p.Thr7455Ala | |
| ENST00000342992.10:c.41278A>G (TTN) | ENSP00000343764.6:p.Thr13760Ala | |
| ENST00000359218.9:c.22162A>G (TTN) | ENSP00000352154.5:p.Thr7388Ala | |
| ENST00000460472.6:c.21787A>G (TTN) | ENSP00000434586.1:p.Thr7263Ala | |
| ENST00000589042.5:c.48982A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr16328Ala | |
| ENST00000591111.5:c.44059A>G (TTN) | ENSP00000465570.1:p.Thr14687Ala | |
| ENST00000615779.4:c.44059A>G (TTN) | ENSP00000483597.1:p.Thr14687Ala | |
| NM_001256850.1:c.44059A>G (TTN) | NP_001243779.1:p.Thr14687Ala | |
| NM_001267550.2:c.48982A>G (TTN) MANE Select | NP_001254479.2:p.Thr16328Ala | |
| NM_003319.4:c.21787A>G (TTN) | NP_003310.4:p.Thr7263Ala | |
| NM_133378.4:c.41278A>G (TTN) | NP_596869.4:p.Thr13760Ala | |
| NM_133432.3:c.22162A>G (TTN) | NP_597676.3:p.Thr7388Ala | |
| NM_133437.4:c.22363A>G (TTN) | NP_597681.4:p.Thr7455Ala | |
| NR_038271.1:n.1280T>C (TTN-AS1) | ||
| XM_011511729.1:c.48079A>G (TTN) | XP_011510031.1:p.Thr16027Ala | |
| XM_011511730.1:c.21973A>G (TTN) | XP_011510032.1:p.Thr7325Ala | |
| XM_011511731.1:c.21832A>G (TTN) | XP_011510033.1:p.Thr7278Ala | |
| XM_017004819.1:c.47875A>G (TTN) | XP_016860308.1:p.Thr15959Ala | |
| XM_017004820.1:c.43273A>G (TTN) | XP_016860309.1:p.Thr14425Ala | |
| XM_017004821.1:c.43270A>G (TTN) | XP_016860310.1:p.Thr14424Ala | |
| XM_017004822.1:c.40312A>G (TTN) | XP_016860311.1:p.Thr13438Ala | |
| XM_017004823.1:c.21928A>G (TTN) | XP_016860312.1:p.Thr7310Ala | |
| XM_024453094.1:c.43423A>G (TTN) | XP_024308862.1:p.Thr14475Ala | |
| XM_024453095.1:c.43420A>G (TTN) | XP_024308863.1:p.Thr14474Ala | |
| XM_024453096.1:c.42853A>G (TTN) | XP_024308864.1:p.Thr14285Ala | |
| XM_024453097.1:c.40195A>G (TTN) | XP_024308865.1:p.Thr13399Ala | |
| XM_024453098.1:c.40114A>G (TTN) | XP_024308866.1:p.Thr13372Ala | |
| XM_024453099.1:c.21877A>G (TTN) | XP_024308867.1:p.Thr7293Ala | |
| XM_024453100.1:c.11731A>G (TTN) | XP_024308868.1:p.Thr3911Ala |