Revel Score:
ENST00000342992
0.115
ENST00000460472
0.115
ENST00000342175
0.115
ENST00000359218
0.115
ENST00000356127
0.115
gnomAD v2:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542368C>T , CM000664.2:g.178542368C>T | GRCh38 |
| NC_000002.11:g.179407095C>T , CM000664.1:g.179407095C>T | GRCh37 |
| NC_000002.10:g.179115341C>T | NCBI36 |
| NG_011618.3:g.293435G>A , LRG_391:g.293435G>A | |
| NG_051363.1:g.24542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89684G>A (TTN) | ENSP00000343764.6:p.Arg29895Lys | |
| ENST00000342175.11:c.70769G>A (TTN) | ENSP00000340554.6:p.Arg23590Lys | |
| ENST00000359218.10:c.70568G>A (TTN) | ENSP00000352154.5:p.Arg23523Lys | |
| ENST00000342175.10:c.70769G>A (TTN) | ENSP00000340554.6:p.Arg23590Lys | |
| ENST00000342992.10:c.89684G>A (TTN) | ENSP00000343764.6:p.Arg29895Lys | |
| ENST00000359218.9:c.70568G>A (TTN) | ENSP00000352154.5:p.Arg23523Lys | |
| ENST00000460472.6:c.70193G>A (TTN) | ENSP00000434586.1:p.Arg23398Lys | |
| ENST00000589042.5:c.97388G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32463Lys | |
| ENST00000591111.5:c.92465G>A (TTN) | ENSP00000465570.1:p.Arg30822Lys | |
| ENST00000615779.4:c.92465G>A (TTN) | ENSP00000483597.1:p.Arg30822Lys | |
| NM_001256850.1:c.92465G>A (TTN) | NP_001243779.1:p.Arg30822Lys | |
| NM_001267550.2:c.97388G>A (TTN) MANE Select | NP_001254479.2:p.Arg32463Lys | |
| NM_003319.4:c.70193G>A (TTN) | NP_003310.4:p.Arg23398Lys | |
| NM_133378.4:c.89684G>A (TTN) | NP_596869.4:p.Arg29895Lys | |
| NM_133432.3:c.70568G>A (TTN) | NP_597676.3:p.Arg23523Lys | |
| NM_133437.4:c.70769G>A (TTN) | NP_597681.4:p.Arg23590Lys | |
| NR_038271.1:n.446+18732C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+7C>T (TTN-AS1) | ||
| XM_011511729.1:c.96485G>A (TTN) | XP_011510031.1:p.Arg32162Lys | |
| XM_011511730.1:c.70379G>A (TTN) | XP_011510032.1:p.Arg23460Lys | |
| XM_011511731.1:c.70238G>A (TTN) | XP_011510033.1:p.Arg23413Lys | |
| XM_017004819.1:c.96281G>A (TTN) | XP_016860308.1:p.Arg32094Lys | |
| XM_017004820.1:c.91679G>A (TTN) | XP_016860309.1:p.Arg30560Lys | |
| XM_017004821.1:c.91676G>A (TTN) | XP_016860310.1:p.Arg30559Lys | |
| XM_017004822.1:c.88718G>A (TTN) | XP_016860311.1:p.Arg29573Lys | |
| XM_017004823.1:c.70334G>A (TTN) | XP_016860312.1:p.Arg23445Lys | |
| XM_024453094.1:c.91829G>A (TTN) | XP_024308862.1:p.Arg30610Lys | |
| XM_024453095.1:c.91826G>A (TTN) | XP_024308863.1:p.Arg30609Lys | |
| XM_024453096.1:c.91259G>A (TTN) | XP_024308864.1:p.Arg30420Lys | |
| XM_024453097.1:c.88601G>A (TTN) | XP_024308865.1:p.Arg29534Lys | |
| XM_024453098.1:c.88520G>A (TTN) | XP_024308866.1:p.Arg29507Lys | |
| XM_024453099.1:c.70283G>A (TTN) | XP_024308867.1:p.Arg23428Lys | |
| XM_024453100.1:c.60137G>A (TTN) | XP_024308868.1:p.Arg20046Lys |