Revel Score:
ENST00000342992
0.114
ENST00000460472
0.114
ENST00000342175
0.114
ENST00000359218
0.114
ENST00000356127
0.114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614751C>T , CM000664.2:g.178614751C>T | GRCh38 |
| NC_000002.11:g.179479478C>T , CM000664.1:g.179479478C>T | GRCh37 |
| NC_000002.10:g.179187723C>T | NCBI36 |
| NG_011618.3:g.221052G>A , LRG_391:g.221052G>A | |
| NG_051363.1:g.96925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41059G>A (TTN) | ENSP00000343764.6:p.Ala13687Thr | |
| ENST00000342175.11:c.22144G>A (TTN) | ENSP00000340554.6:p.Ala7382Thr | |
| ENST00000359218.10:c.21943G>A (TTN) | ENSP00000352154.5:p.Ala7315Thr | |
| ENST00000342175.10:c.22144G>A (TTN) | ENSP00000340554.6:p.Ala7382Thr | |
| ENST00000342992.10:c.41059G>A (TTN) | ENSP00000343764.6:p.Ala13687Thr | |
| ENST00000359218.9:c.21943G>A (TTN) | ENSP00000352154.5:p.Ala7315Thr | |
| ENST00000460472.6:c.21568G>A (TTN) | ENSP00000434586.1:p.Ala7190Thr | |
| ENST00000589042.5:c.48763G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala16255Thr | |
| ENST00000591111.5:c.43840G>A (TTN) | ENSP00000465570.1:p.Ala14614Thr | |
| ENST00000615779.4:c.43840G>A (TTN) | ENSP00000483597.1:p.Ala14614Thr | |
| NM_001256850.1:c.43840G>A (TTN) | NP_001243779.1:p.Ala14614Thr | |
| NM_001267550.2:c.48763G>A (TTN) MANE Select | NP_001254479.2:p.Ala16255Thr | |
| NM_003319.4:c.21568G>A (TTN) | NP_003310.4:p.Ala7190Thr | |
| NM_133378.4:c.41059G>A (TTN) | NP_596869.4:p.Ala13687Thr | |
| NM_133432.3:c.21943G>A (TTN) | NP_597676.3:p.Ala7315Thr | |
| NM_133437.4:c.22144G>A (TTN) | NP_597681.4:p.Ala7382Thr | |
| NR_038271.1:n.1499C>T (TTN-AS1) | ||
| XM_011511729.1:c.47860G>A (TTN) | XP_011510031.1:p.Ala15954Thr | |
| XM_011511730.1:c.21754G>A (TTN) | XP_011510032.1:p.Ala7252Thr | |
| XM_011511731.1:c.21613G>A (TTN) | XP_011510033.1:p.Ala7205Thr | |
| XM_017004819.1:c.47656G>A (TTN) | XP_016860308.1:p.Ala15886Thr | |
| XM_017004820.1:c.43054G>A (TTN) | XP_016860309.1:p.Ala14352Thr | |
| XM_017004821.1:c.43051G>A (TTN) | XP_016860310.1:p.Ala14351Thr | |
| XM_017004822.1:c.40093G>A (TTN) | XP_016860311.1:p.Ala13365Thr | |
| XM_017004823.1:c.21709G>A (TTN) | XP_016860312.1:p.Ala7237Thr | |
| XM_024453094.1:c.43204G>A (TTN) | XP_024308862.1:p.Ala14402Thr | |
| XM_024453095.1:c.43201G>A (TTN) | XP_024308863.1:p.Ala14401Thr | |
| XM_024453096.1:c.42634G>A (TTN) | XP_024308864.1:p.Ala14212Thr | |
| XM_024453097.1:c.39976G>A (TTN) | XP_024308865.1:p.Ala13326Thr | |
| XM_024453098.1:c.39895G>A (TTN) | XP_024308866.1:p.Ala13299Thr | |
| XM_024453099.1:c.21658G>A (TTN) | XP_024308867.1:p.Ala7220Thr | |
| XM_024453100.1:c.11512G>A (TTN) | XP_024308868.1:p.Ala3838Thr |