Revel Score:
ENST00000342992
0.342
ENST00000460472
0.342
ENST00000342175
0.342
ENST00000359218
0.342
ENST00000356127
0.342
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607488C>A , CM000664.2:g.178607488C>A | GRCh38 |
| NC_000002.11:g.179472215C>A , CM000664.1:g.179472215C>A | GRCh37 |
| NC_000002.10:g.179180460C>A | NCBI36 |
| NG_011618.3:g.228315G>T , LRG_391:g.228315G>T | |
| NG_051363.1:g.89662C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45496G>T (TTN) | ENSP00000343764.6:p.Ala15166Ser | |
| ENST00000342175.11:c.26581G>T (TTN) | ENSP00000340554.6:p.Ala8861Ser | |
| ENST00000359218.10:c.26380G>T (TTN) | ENSP00000352154.5:p.Ala8794Ser | |
| ENST00000342175.10:c.26581G>T (TTN) | ENSP00000340554.6:p.Ala8861Ser | |
| ENST00000342992.10:c.45496G>T (TTN) | ENSP00000343764.6:p.Ala15166Ser | |
| ENST00000359218.9:c.26380G>T (TTN) | ENSP00000352154.5:p.Ala8794Ser | |
| ENST00000460472.6:c.26005G>T (TTN) | ENSP00000434586.1:p.Ala8669Ser | |
| ENST00000589042.5:c.53200G>T (TTN) MANE Select | ENSP00000467141.1:p.Ala17734Ser | |
| ENST00000591111.5:c.48277G>T (TTN) | ENSP00000465570.1:p.Ala16093Ser | |
| ENST00000615779.4:c.48277G>T (TTN) | ENSP00000483597.1:p.Ala16093Ser | |
| NM_001256850.1:c.48277G>T (TTN) | NP_001243779.1:p.Ala16093Ser | |
| NM_001267550.2:c.53200G>T (TTN) MANE Select | NP_001254479.2:p.Ala17734Ser | |
| NM_003319.4:c.26005G>T (TTN) | NP_003310.4:p.Ala8669Ser | |
| NM_133378.4:c.45496G>T (TTN) | NP_596869.4:p.Ala15166Ser | |
| NM_133432.3:c.26380G>T (TTN) | NP_597676.3:p.Ala8794Ser | |
| NM_133437.4:c.26581G>T (TTN) | NP_597681.4:p.Ala8861Ser | |
| NR_038271.1:n.683-679C>A (TTN-AS1) | ||
| XM_011511729.1:c.52297G>T (TTN) | XP_011510031.1:p.Ala17433Ser | |
| XM_011511730.1:c.26191G>T (TTN) | XP_011510032.1:p.Ala8731Ser | |
| XM_011511731.1:c.26050G>T (TTN) | XP_011510033.1:p.Ala8684Ser | |
| XM_017004819.1:c.52093G>T (TTN) | XP_016860308.1:p.Ala17365Ser | |
| XM_017004820.1:c.47491G>T (TTN) | XP_016860309.1:p.Ala15831Ser | |
| XM_017004821.1:c.47488G>T (TTN) | XP_016860310.1:p.Ala15830Ser | |
| XM_017004822.1:c.44530G>T (TTN) | XP_016860311.1:p.Ala14844Ser | |
| XM_017004823.1:c.26146G>T (TTN) | XP_016860312.1:p.Ala8716Ser | |
| XM_024453094.1:c.47641G>T (TTN) | XP_024308862.1:p.Ala15881Ser | |
| XM_024453095.1:c.47638G>T (TTN) | XP_024308863.1:p.Ala15880Ser | |
| XM_024453096.1:c.47071G>T (TTN) | XP_024308864.1:p.Ala15691Ser | |
| XM_024453097.1:c.44413G>T (TTN) | XP_024308865.1:p.Ala14805Ser | |
| XM_024453098.1:c.44332G>T (TTN) | XP_024308866.1:p.Ala14778Ser | |
| XM_024453099.1:c.26095G>T (TTN) | XP_024308867.1:p.Ala8699Ser | |
| XM_024453100.1:c.15949G>T (TTN) | XP_024308868.1:p.Ala5317Ser |