Revel Score:
ENST00000342992
0.102
ENST00000460472
0.102
ENST00000342175
0.102
ENST00000359218
0.102
ENST00000356127
0.102
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586615G>A , CM000664.2:g.178586615G>A | GRCh38 |
| NC_000002.11:g.179451342G>A , CM000664.1:g.179451342G>A | GRCh37 |
| NC_000002.10:g.179159588G>A | NCBI36 |
| NG_011618.3:g.249188C>T , LRG_391:g.249188C>T | |
| NG_051363.1:g.68789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56582C>T (TTN) | ENSP00000343764.6:p.Thr18861Ile | |
| ENST00000342175.11:c.37667C>T (TTN) | ENSP00000340554.6:p.Thr12556Ile | |
| ENST00000359218.10:c.37466C>T (TTN) | ENSP00000352154.5:p.Thr12489Ile | |
| ENST00000342175.10:c.37667C>T (TTN) | ENSP00000340554.6:p.Thr12556Ile | |
| ENST00000342992.10:c.56582C>T (TTN) | ENSP00000343764.6:p.Thr18861Ile | |
| ENST00000359218.9:c.37466C>T (TTN) | ENSP00000352154.5:p.Thr12489Ile | |
| ENST00000460472.6:c.37091C>T (TTN) | ENSP00000434586.1:p.Thr12364Ile | |
| ENST00000589042.5:c.64286C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr21429Ile | |
| ENST00000591111.5:c.59363C>T (TTN) | ENSP00000465570.1:p.Thr19788Ile | |
| ENST00000615779.4:c.59363C>T (TTN) | ENSP00000483597.1:p.Thr19788Ile | |
| NM_001256850.1:c.59363C>T (TTN) | NP_001243779.1:p.Thr19788Ile | |
| NM_001267550.2:c.64286C>T (TTN) MANE Select | NP_001254479.2:p.Thr21429Ile | |
| NM_003319.4:c.37091C>T (TTN) | NP_003310.4:p.Thr12364Ile | |
| NM_133378.4:c.56582C>T (TTN) | NP_596869.4:p.Thr18861Ile | |
| NM_133432.3:c.37466C>T (TTN) | NP_597676.3:p.Thr12489Ile | |
| NM_133437.4:c.37667C>T (TTN) | NP_597681.4:p.Thr12556Ile | |
| NR_038271.1:n.597-10981G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+1622G>A (TTN-AS1) | ||
| XM_011511729.1:c.63383C>T (TTN) | XP_011510031.1:p.Thr21128Ile | |
| XM_011511730.1:c.37277C>T (TTN) | XP_011510032.1:p.Thr12426Ile | |
| XM_011511731.1:c.37136C>T (TTN) | XP_011510033.1:p.Thr12379Ile | |
| XM_017004819.1:c.63179C>T (TTN) | XP_016860308.1:p.Thr21060Ile | |
| XM_017004820.1:c.58577C>T (TTN) | XP_016860309.1:p.Thr19526Ile | |
| XM_017004821.1:c.58574C>T (TTN) | XP_016860310.1:p.Thr19525Ile | |
| XM_017004822.1:c.55616C>T (TTN) | XP_016860311.1:p.Thr18539Ile | |
| XM_017004823.1:c.37232C>T (TTN) | XP_016860312.1:p.Thr12411Ile | |
| XM_024453094.1:c.58727C>T (TTN) | XP_024308862.1:p.Thr19576Ile | |
| XM_024453095.1:c.58724C>T (TTN) | XP_024308863.1:p.Thr19575Ile | |
| XM_024453096.1:c.58157C>T (TTN) | XP_024308864.1:p.Thr19386Ile | |
| XM_024453097.1:c.55499C>T (TTN) | XP_024308865.1:p.Thr18500Ile | |
| XM_024453098.1:c.55418C>T (TTN) | XP_024308866.1:p.Thr18473Ile | |
| XM_024453099.1:c.37181C>T (TTN) | XP_024308867.1:p.Thr12394Ile | |
| XM_024453100.1:c.27035C>T (TTN) | XP_024308868.1:p.Thr9012Ile |