Revel Score:
ENST00000342992
0.539
ENST00000460472
0.539
ENST00000342175
0.539
ENST00000359218
0.539
ENST00000356127
0.539
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005795 (EAS)
Exomes Max Group AF
0.00004912 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580378A>G , CM000664.2:g.178580378A>G | GRCh38 |
| NC_000002.11:g.179445105A>G , CM000664.1:g.179445105A>G | GRCh37 |
| NC_000002.10:g.179153351A>G | NCBI36 |
| NG_011618.3:g.255425T>C , LRG_391:g.255425T>C | |
| NG_051363.1:g.62552A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59297T>C (TTN) | ENSP00000343764.6:p.Leu19766Ser | |
| ENST00000342175.11:c.40382T>C (TTN) | ENSP00000340554.6:p.Leu13461Ser | |
| ENST00000359218.10:c.40181T>C (TTN) | ENSP00000352154.5:p.Leu13394Ser | |
| ENST00000342175.10:c.40382T>C (TTN) | ENSP00000340554.6:p.Leu13461Ser | |
| ENST00000342992.10:c.59297T>C (TTN) | ENSP00000343764.6:p.Leu19766Ser | |
| ENST00000359218.9:c.40181T>C (TTN) | ENSP00000352154.5:p.Leu13394Ser | |
| ENST00000460472.6:c.39806T>C (TTN) | ENSP00000434586.1:p.Leu13269Ser | |
| ENST00000589042.5:c.67001T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu22334Ser | |
| ENST00000591111.5:c.62078T>C (TTN) | ENSP00000465570.1:p.Leu20693Ser | |
| ENST00000615779.4:c.62078T>C (TTN) | ENSP00000483597.1:p.Leu20693Ser | |
| NM_001256850.1:c.62078T>C (TTN) | NP_001243779.1:p.Leu20693Ser | |
| NM_001267550.2:c.67001T>C (TTN) MANE Select | NP_001254479.2:p.Leu22334Ser | |
| NM_003319.4:c.39806T>C (TTN) | NP_003310.4:p.Leu13269Ser | |
| NM_133378.4:c.59297T>C (TTN) | NP_596869.4:p.Leu19766Ser | |
| NM_133432.3:c.40181T>C (TTN) | NP_597676.3:p.Leu13394Ser | |
| NM_133437.4:c.40382T>C (TTN) | NP_597681.4:p.Leu13461Ser | |
| NR_038271.1:n.596+8929A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-2194A>G (TTN-AS1) | ||
| XM_011511729.1:c.66098T>C (TTN) | XP_011510031.1:p.Leu22033Ser | |
| XM_011511730.1:c.39992T>C (TTN) | XP_011510032.1:p.Leu13331Ser | |
| XM_011511731.1:c.39851T>C (TTN) | XP_011510033.1:p.Leu13284Ser | |
| XM_017004819.1:c.65894T>C (TTN) | XP_016860308.1:p.Leu21965Ser | |
| XM_017004820.1:c.61292T>C (TTN) | XP_016860309.1:p.Leu20431Ser | |
| XM_017004821.1:c.61289T>C (TTN) | XP_016860310.1:p.Leu20430Ser | |
| XM_017004822.1:c.58331T>C (TTN) | XP_016860311.1:p.Leu19444Ser | |
| XM_017004823.1:c.39947T>C (TTN) | XP_016860312.1:p.Leu13316Ser | |
| XM_024453094.1:c.61442T>C (TTN) | XP_024308862.1:p.Leu20481Ser | |
| XM_024453095.1:c.61439T>C (TTN) | XP_024308863.1:p.Leu20480Ser | |
| XM_024453096.1:c.60872T>C (TTN) | XP_024308864.1:p.Leu20291Ser | |
| XM_024453097.1:c.58214T>C (TTN) | XP_024308865.1:p.Leu19405Ser | |
| XM_024453098.1:c.58133T>C (TTN) | XP_024308866.1:p.Leu19378Ser | |
| XM_024453099.1:c.39896T>C (TTN) | XP_024308867.1:p.Leu13299Ser | |
| XM_024453100.1:c.29750T>C (TTN) | XP_024308868.1:p.Leu9917Ser |