Revel Score:
ENST00000342992
0.323
ENST00000460472
0.323
ENST00000342175
0.323
ENST00000359218
0.323
ENST00000356127
0.323
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003591 (SAS)
Exomes Max Group AF
0.00003769 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614531G>A , CM000664.2:g.178614531G>A | GRCh38 |
| NC_000002.11:g.179479258G>A , CM000664.1:g.179479258G>A | GRCh37 |
| NC_000002.10:g.179187503G>A | NCBI36 |
| NG_011618.3:g.221272C>T , LRG_391:g.221272C>T | |
| NG_051363.1:g.96705G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41279C>T (TTN) | ENSP00000343764.6:p.Thr13760Ile | |
| ENST00000342175.11:c.22364C>T (TTN) | ENSP00000340554.6:p.Thr7455Ile | |
| ENST00000359218.10:c.22163C>T (TTN) | ENSP00000352154.5:p.Thr7388Ile | |
| ENST00000342175.10:c.22364C>T (TTN) | ENSP00000340554.6:p.Thr7455Ile | |
| ENST00000342992.10:c.41279C>T (TTN) | ENSP00000343764.6:p.Thr13760Ile | |
| ENST00000359218.9:c.22163C>T (TTN) | ENSP00000352154.5:p.Thr7388Ile | |
| ENST00000460472.6:c.21788C>T (TTN) | ENSP00000434586.1:p.Thr7263Ile | |
| ENST00000589042.5:c.48983C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr16328Ile | |
| ENST00000591111.5:c.44060C>T (TTN) | ENSP00000465570.1:p.Thr14687Ile | |
| ENST00000615779.4:c.44060C>T (TTN) | ENSP00000483597.1:p.Thr14687Ile | |
| NM_001256850.1:c.44060C>T (TTN) | NP_001243779.1:p.Thr14687Ile | |
| NM_001267550.2:c.48983C>T (TTN) MANE Select | NP_001254479.2:p.Thr16328Ile | |
| NM_003319.4:c.21788C>T (TTN) | NP_003310.4:p.Thr7263Ile | |
| NM_133378.4:c.41279C>T (TTN) | NP_596869.4:p.Thr13760Ile | |
| NM_133432.3:c.22163C>T (TTN) | NP_597676.3:p.Thr7388Ile | |
| NM_133437.4:c.22364C>T (TTN) | NP_597681.4:p.Thr7455Ile | |
| NR_038271.1:n.1279G>A (TTN-AS1) | ||
| XM_011511729.1:c.48080C>T (TTN) | XP_011510031.1:p.Thr16027Ile | |
| XM_011511730.1:c.21974C>T (TTN) | XP_011510032.1:p.Thr7325Ile | |
| XM_011511731.1:c.21833C>T (TTN) | XP_011510033.1:p.Thr7278Ile | |
| XM_017004819.1:c.47876C>T (TTN) | XP_016860308.1:p.Thr15959Ile | |
| XM_017004820.1:c.43274C>T (TTN) | XP_016860309.1:p.Thr14425Ile | |
| XM_017004821.1:c.43271C>T (TTN) | XP_016860310.1:p.Thr14424Ile | |
| XM_017004822.1:c.40313C>T (TTN) | XP_016860311.1:p.Thr13438Ile | |
| XM_017004823.1:c.21929C>T (TTN) | XP_016860312.1:p.Thr7310Ile | |
| XM_024453094.1:c.43424C>T (TTN) | XP_024308862.1:p.Thr14475Ile | |
| XM_024453095.1:c.43421C>T (TTN) | XP_024308863.1:p.Thr14474Ile | |
| XM_024453096.1:c.42854C>T (TTN) | XP_024308864.1:p.Thr14285Ile | |
| XM_024453097.1:c.40196C>T (TTN) | XP_024308865.1:p.Thr13399Ile | |
| XM_024453098.1:c.40115C>T (TTN) | XP_024308866.1:p.Thr13372Ile | |
| XM_024453099.1:c.21878C>T (TTN) | XP_024308867.1:p.Thr7293Ile | |
| XM_024453100.1:c.11732C>T (TTN) | XP_024308868.1:p.Thr3911Ile |