Linked-Data Service Error:
Error
Failed to retrieve aggregated linked-data
Status
NodeJS Error object: timeout of 3500ms exceeded
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531506T>G , CM000664.2:g.178531506T>G | GRCh38 |
| NC_000002.11:g.179396233T>G , CM000664.1:g.179396233T>G | GRCh37 |
| NC_000002.10:g.179104479T>G | NCBI36 |
| NG_011618.3:g.304297A>C , LRG_391:g.304297A>C | |
| NG_051363.1:g.13680T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97405A>C (TTN) | ENSP00000343764.6:p.Thr32469Pro | |
| ENST00000342175.11:c.78490A>C (TTN) | ENSP00000340554.6:p.Thr26164Pro | |
| ENST00000359218.10:c.78289A>C (TTN) | ENSP00000352154.5:p.Thr26097Pro | |
| ENST00000342175.10:c.78490A>C (TTN) | ENSP00000340554.6:p.Thr26164Pro | |
| ENST00000342992.10:c.97405A>C (TTN) | ENSP00000343764.6:p.Thr32469Pro | |
| ENST00000359218.9:c.78289A>C (TTN) | ENSP00000352154.5:p.Thr26097Pro | |
| ENST00000460472.6:c.77914A>C (TTN) | ENSP00000434586.1:p.Thr25972Pro | |
| ENST00000589042.5:c.105109A>C (TTN) MANE Select | ENSP00000467141.1:p.Thr35037Pro | |
| ENST00000591111.5:c.100186A>C (TTN) | ENSP00000465570.1:p.Thr33396Pro | |
| ENST00000615779.4:c.100186A>C (TTN) | ENSP00000483597.1:p.Thr33396Pro | |
| NM_001256850.1:c.100186A>C (TTN) | NP_001243779.1:p.Thr33396Pro | |
| NM_001267550.2:c.105109A>C (TTN) MANE Select | NP_001254479.2:p.Thr35037Pro | |
| NM_003319.4:c.77914A>C (TTN) | NP_003310.4:p.Thr25972Pro | |
| NM_133378.4:c.97405A>C (TTN) | NP_596869.4:p.Thr32469Pro | |
| NM_133432.3:c.78289A>C (TTN) | NP_597676.3:p.Thr26097Pro | |
| NM_133437.4:c.78490A>C (TTN) | NP_597681.4:p.Thr26164Pro | |
| NR_038271.1:n.446+7870T>G (TTN-AS1) | ||
| NR_038272.1:n.220-4226T>G (TTN-AS1) | ||
| XM_011511729.1:c.104206A>C (TTN) | XP_011510031.1:p.Thr34736Pro | |
| XM_011511730.1:c.78100A>C (TTN) | XP_011510032.1:p.Thr26034Pro | |
| XM_011511731.1:c.77959A>C (TTN) | XP_011510033.1:p.Thr25987Pro | |
| XM_017004819.1:c.104002A>C (TTN) | XP_016860308.1:p.Thr34668Pro | |
| XM_017004820.1:c.99400A>C (TTN) | XP_016860309.1:p.Thr33134Pro | |
| XM_017004821.1:c.99397A>C (TTN) | XP_016860310.1:p.Thr33133Pro | |
| XM_017004822.1:c.96439A>C (TTN) | XP_016860311.1:p.Thr32147Pro | |
| XM_017004823.1:c.78055A>C (TTN) | XP_016860312.1:p.Thr26019Pro | |
| XM_024453094.1:c.99550A>C (TTN) | XP_024308862.1:p.Thr33184Pro | |
| XM_024453095.1:c.99547A>C (TTN) | XP_024308863.1:p.Thr33183Pro | |
| XM_024453096.1:c.98980A>C (TTN) | XP_024308864.1:p.Thr32994Pro | |
| XM_024453097.1:c.96322A>C (TTN) | XP_024308865.1:p.Thr32108Pro | |
| XM_024453098.1:c.96241A>C (TTN) | XP_024308866.1:p.Thr32081Pro | |
| XM_024453099.1:c.78004A>C (TTN) | XP_024308867.1:p.Thr26002Pro | |
| XM_024453100.1:c.67858A>C (TTN) | XP_024308868.1:p.Thr22620Pro |