Revel Score:
ENST00000342992
0.135
ENST00000460472
0.135
ENST00000342175
0.135
ENST00000359218
0.135
ENST00000356127
0.135
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001725 (NFE)
Genomes Max Group AF
0.00000801 (AFR)
Exomes Max Group AF
0.00001664 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614558A>G , CM000664.2:g.178614558A>G | GRCh38 |
| NC_000002.11:g.179479285A>G , CM000664.1:g.179479285A>G | GRCh37 |
| NC_000002.10:g.179187530A>G | NCBI36 |
| NG_011618.3:g.221245T>C , LRG_391:g.221245T>C | |
| NG_051363.1:g.96732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41252T>C (TTN) | ENSP00000343764.6:p.Val13751Ala | |
| ENST00000342175.11:c.22337T>C (TTN) | ENSP00000340554.6:p.Val7446Ala | |
| ENST00000359218.10:c.22136T>C (TTN) | ENSP00000352154.5:p.Val7379Ala | |
| ENST00000342175.10:c.22337T>C (TTN) | ENSP00000340554.6:p.Val7446Ala | |
| ENST00000342992.10:c.41252T>C (TTN) | ENSP00000343764.6:p.Val13751Ala | |
| ENST00000359218.9:c.22136T>C (TTN) | ENSP00000352154.5:p.Val7379Ala | |
| ENST00000460472.6:c.21761T>C (TTN) | ENSP00000434586.1:p.Val7254Ala | |
| ENST00000589042.5:c.48956T>C (TTN) MANE Select | ENSP00000467141.1:p.Val16319Ala | |
| ENST00000591111.5:c.44033T>C (TTN) | ENSP00000465570.1:p.Val14678Ala | |
| ENST00000615779.4:c.44033T>C (TTN) | ENSP00000483597.1:p.Val14678Ala | |
| NM_001256850.1:c.44033T>C (TTN) | NP_001243779.1:p.Val14678Ala | |
| NM_001267550.2:c.48956T>C (TTN) MANE Select | NP_001254479.2:p.Val16319Ala | |
| NM_003319.4:c.21761T>C (TTN) | NP_003310.4:p.Val7254Ala | |
| NM_133378.4:c.41252T>C (TTN) | NP_596869.4:p.Val13751Ala | |
| NM_133432.3:c.22136T>C (TTN) | NP_597676.3:p.Val7379Ala | |
| NM_133437.4:c.22337T>C (TTN) | NP_597681.4:p.Val7446Ala | |
| NR_038271.1:n.1306A>G (TTN-AS1) | ||
| XM_011511729.1:c.48053T>C (TTN) | XP_011510031.1:p.Val16018Ala | |
| XM_011511730.1:c.21947T>C (TTN) | XP_011510032.1:p.Val7316Ala | |
| XM_011511731.1:c.21806T>C (TTN) | XP_011510033.1:p.Val7269Ala | |
| XM_017004819.1:c.47849T>C (TTN) | XP_016860308.1:p.Val15950Ala | |
| XM_017004820.1:c.43247T>C (TTN) | XP_016860309.1:p.Val14416Ala | |
| XM_017004821.1:c.43244T>C (TTN) | XP_016860310.1:p.Val14415Ala | |
| XM_017004822.1:c.40286T>C (TTN) | XP_016860311.1:p.Val13429Ala | |
| XM_017004823.1:c.21902T>C (TTN) | XP_016860312.1:p.Val7301Ala | |
| XM_024453094.1:c.43397T>C (TTN) | XP_024308862.1:p.Val14466Ala | |
| XM_024453095.1:c.43394T>C (TTN) | XP_024308863.1:p.Val14465Ala | |
| XM_024453096.1:c.42827T>C (TTN) | XP_024308864.1:p.Val14276Ala | |
| XM_024453097.1:c.40169T>C (TTN) | XP_024308865.1:p.Val13390Ala | |
| XM_024453098.1:c.40088T>C (TTN) | XP_024308866.1:p.Val13363Ala | |
| XM_024453099.1:c.21851T>C (TTN) | XP_024308867.1:p.Val7284Ala | |
| XM_024453100.1:c.11705T>C (TTN) | XP_024308868.1:p.Val3902Ala |