Linked Data
ClinVar Variation Id:
488972
dbSNP Id:
rs1260821931
gnomAD v3:
2-178535729-C-T
gnomAD v4:
2-178535729-C-T
PubMed:
PMID:26735901
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535729C>T , CM000664.2:g.178535729C>T | GRCh38 |
| NC_000002.11:g.179400456C>T , CM000664.1:g.179400456C>T | GRCh37 |
| NC_000002.10:g.179108702C>T | NCBI36 |
| NG_011618.3:g.300074G>A , LRG_391:g.300074G>A | |
| NG_051363.1:g.17903C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93182G>A (TTN) | ENSP00000343764.6:p.Trp31061Ter | |
| ENST00000342175.11:c.74267G>A (TTN) | ENSP00000340554.6:p.Trp24756Ter | |
| ENST00000359218.10:c.74066G>A (TTN) | ENSP00000352154.5:p.Trp24689Ter | |
| ENST00000342175.10:c.74267G>A (TTN) | ENSP00000340554.6:p.Trp24756Ter | |
| ENST00000342992.10:c.93182G>A (TTN) | ENSP00000343764.6:p.Trp31061Ter | |
| ENST00000359218.9:c.74066G>A (TTN) | ENSP00000352154.5:p.Trp24689Ter | |
| ENST00000460472.6:c.73691G>A (TTN) | ENSP00000434586.1:p.Trp24564Ter | |
| ENST00000589042.5:c.100886G>A (TTN) MANE Select | ENSP00000467141.1:p.Trp33629Ter | |
| ENST00000591111.5:c.95963G>A (TTN) | ENSP00000465570.1:p.Trp31988Ter | |
| ENST00000615779.4:c.95963G>A (TTN) | ENSP00000483597.1:p.Trp31988Ter | |
| NM_001256850.1:c.95963G>A (TTN) | NP_001243779.1:p.Trp31988Ter | |
| NM_001267550.2:c.100886G>A (TTN) MANE Select | NP_001254479.2:p.Trp33629Ter | |
| NM_003319.4:c.73691G>A (TTN) | NP_003310.4:p.Trp24564Ter | |
| NM_133378.4:c.93182G>A (TTN) | NP_596869.4:p.Trp31061Ter | |
| NM_133432.3:c.74066G>A (TTN) | NP_597676.3:p.Trp24689Ter | |
| NM_133437.4:c.74267G>A (TTN) | NP_597681.4:p.Trp24756Ter | |
| NR_038271.1:n.446+12093C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3C>T (TTN-AS1) | ||
| XM_011511729.1:c.99983G>A (TTN) | XP_011510031.1:p.Trp33328Ter | |
| XM_011511730.1:c.73877G>A (TTN) | XP_011510032.1:p.Trp24626Ter | |
| XM_011511731.1:c.73736G>A (TTN) | XP_011510033.1:p.Trp24579Ter | |
| XM_017004819.1:c.99779G>A (TTN) | XP_016860308.1:p.Trp33260Ter | |
| XM_017004820.1:c.95177G>A (TTN) | XP_016860309.1:p.Trp31726Ter | |
| XM_017004821.1:c.95174G>A (TTN) | XP_016860310.1:p.Trp31725Ter | |
| XM_017004822.1:c.92216G>A (TTN) | XP_016860311.1:p.Trp30739Ter | |
| XM_017004823.1:c.73832G>A (TTN) | XP_016860312.1:p.Trp24611Ter | |
| XM_024453094.1:c.95327G>A (TTN) | XP_024308862.1:p.Trp31776Ter | |
| XM_024453095.1:c.95324G>A (TTN) | XP_024308863.1:p.Trp31775Ter | |
| XM_024453096.1:c.94757G>A (TTN) | XP_024308864.1:p.Trp31586Ter | |
| XM_024453097.1:c.92099G>A (TTN) | XP_024308865.1:p.Trp30700Ter | |
| XM_024453098.1:c.92018G>A (TTN) | XP_024308866.1:p.Trp30673Ter | |
| XM_024453099.1:c.73781G>A (TTN) | XP_024308867.1:p.Trp24594Ter | |
| XM_024453100.1:c.63635G>A (TTN) | XP_024308868.1:p.Trp21212Ter |