Revel Score:
ENST00000342992
0.094
ENST00000460472
0.094
ENST00000342175
0.094
ENST00000359218
0.094
ENST00000356127
0.094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614751C>A , CM000664.2:g.178614751C>A | GRCh38 |
| NC_000002.11:g.179479478C>A , CM000664.1:g.179479478C>A | GRCh37 |
| NC_000002.10:g.179187723C>A | NCBI36 |
| NG_011618.3:g.221052G>T , LRG_391:g.221052G>T | |
| NG_051363.1:g.96925C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41059G>T (TTN) | ENSP00000343764.6:p.Ala13687Ser | |
| ENST00000342175.11:c.22144G>T (TTN) | ENSP00000340554.6:p.Ala7382Ser | |
| ENST00000359218.10:c.21943G>T (TTN) | ENSP00000352154.5:p.Ala7315Ser | |
| ENST00000342175.10:c.22144G>T (TTN) | ENSP00000340554.6:p.Ala7382Ser | |
| ENST00000342992.10:c.41059G>T (TTN) | ENSP00000343764.6:p.Ala13687Ser | |
| ENST00000359218.9:c.21943G>T (TTN) | ENSP00000352154.5:p.Ala7315Ser | |
| ENST00000460472.6:c.21568G>T (TTN) | ENSP00000434586.1:p.Ala7190Ser | |
| ENST00000589042.5:c.48763G>T (TTN) MANE Select | ENSP00000467141.1:p.Ala16255Ser | |
| ENST00000591111.5:c.43840G>T (TTN) | ENSP00000465570.1:p.Ala14614Ser | |
| ENST00000615779.4:c.43840G>T (TTN) | ENSP00000483597.1:p.Ala14614Ser | |
| NM_001256850.1:c.43840G>T (TTN) | NP_001243779.1:p.Ala14614Ser | |
| NM_001267550.2:c.48763G>T (TTN) MANE Select | NP_001254479.2:p.Ala16255Ser | |
| NM_003319.4:c.21568G>T (TTN) | NP_003310.4:p.Ala7190Ser | |
| NM_133378.4:c.41059G>T (TTN) | NP_596869.4:p.Ala13687Ser | |
| NM_133432.3:c.21943G>T (TTN) | NP_597676.3:p.Ala7315Ser | |
| NM_133437.4:c.22144G>T (TTN) | NP_597681.4:p.Ala7382Ser | |
| NR_038271.1:n.1499C>A (TTN-AS1) | ||
| XM_011511729.1:c.47860G>T (TTN) | XP_011510031.1:p.Ala15954Ser | |
| XM_011511730.1:c.21754G>T (TTN) | XP_011510032.1:p.Ala7252Ser | |
| XM_011511731.1:c.21613G>T (TTN) | XP_011510033.1:p.Ala7205Ser | |
| XM_017004819.1:c.47656G>T (TTN) | XP_016860308.1:p.Ala15886Ser | |
| XM_017004820.1:c.43054G>T (TTN) | XP_016860309.1:p.Ala14352Ser | |
| XM_017004821.1:c.43051G>T (TTN) | XP_016860310.1:p.Ala14351Ser | |
| XM_017004822.1:c.40093G>T (TTN) | XP_016860311.1:p.Ala13365Ser | |
| XM_017004823.1:c.21709G>T (TTN) | XP_016860312.1:p.Ala7237Ser | |
| XM_024453094.1:c.43204G>T (TTN) | XP_024308862.1:p.Ala14402Ser | |
| XM_024453095.1:c.43201G>T (TTN) | XP_024308863.1:p.Ala14401Ser | |
| XM_024453096.1:c.42634G>T (TTN) | XP_024308864.1:p.Ala14212Ser | |
| XM_024453097.1:c.39976G>T (TTN) | XP_024308865.1:p.Ala13326Ser | |
| XM_024453098.1:c.39895G>T (TTN) | XP_024308866.1:p.Ala13299Ser | |
| XM_024453099.1:c.21658G>T (TTN) | XP_024308867.1:p.Ala7220Ser | |
| XM_024453100.1:c.11512G>T (TTN) | XP_024308868.1:p.Ala3838Ser |