dbSNP:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614740G>T , CM000664.2:g.178614740G>T | GRCh38 |
| NC_000002.11:g.179479467G>T , CM000664.1:g.179479467G>T | GRCh37 |
| NC_000002.10:g.179187712G>T | NCBI36 |
| NG_011618.3:g.221063C>A , LRG_391:g.221063C>A | |
| NG_051363.1:g.96914G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41070C>A (TTN) | ENSP00000343764.6:p.Ile13690= | |
| ENST00000342175.11:c.22155C>A (TTN) | ENSP00000340554.6:p.Ile7385= | |
| ENST00000359218.10:c.21954C>A (TTN) | ENSP00000352154.5:p.Ile7318= | |
| ENST00000342175.10:c.22155C>A (TTN) | ENSP00000340554.6:p.Ile7385= | |
| ENST00000342992.10:c.41070C>A (TTN) | ENSP00000343764.6:p.Ile13690= | |
| ENST00000359218.9:c.21954C>A (TTN) | ENSP00000352154.5:p.Ile7318= | |
| ENST00000460472.6:c.21579C>A (TTN) | ENSP00000434586.1:p.Ile7193= | |
| ENST00000589042.5:c.48774C>A (TTN) MANE Select | ENSP00000467141.1:p.Ile16258= | |
| ENST00000591111.5:c.43851C>A (TTN) | ENSP00000465570.1:p.Ile14617= | |
| ENST00000615779.4:c.43851C>A (TTN) | ENSP00000483597.1:p.Ile14617= | |
| NM_001256850.1:c.43851C>A (TTN) | NP_001243779.1:p.Ile14617= | |
| NM_001267550.2:c.48774C>A (TTN) MANE Select | NP_001254479.2:p.Ile16258= | |
| NM_003319.4:c.21579C>A (TTN) | NP_003310.4:p.Ile7193= | |
| NM_133378.4:c.41070C>A (TTN) | NP_596869.4:p.Ile13690= | |
| NM_133432.3:c.21954C>A (TTN) | NP_597676.3:p.Ile7318= | |
| NM_133437.4:c.22155C>A (TTN) | NP_597681.4:p.Ile7385= | |
| NR_038271.1:n.1488G>T (TTN-AS1) | ||
| XM_011511729.1:c.47871C>A (TTN) | XP_011510031.1:p.Ile15957= | |
| XM_011511730.1:c.21765C>A (TTN) | XP_011510032.1:p.Ile7255= | |
| XM_011511731.1:c.21624C>A (TTN) | XP_011510033.1:p.Ile7208= | |
| XM_017004819.1:c.47667C>A (TTN) | XP_016860308.1:p.Ile15889= | |
| XM_017004820.1:c.43065C>A (TTN) | XP_016860309.1:p.Ile14355= | |
| XM_017004821.1:c.43062C>A (TTN) | XP_016860310.1:p.Ile14354= | |
| XM_017004822.1:c.40104C>A (TTN) | XP_016860311.1:p.Ile13368= | |
| XM_017004823.1:c.21720C>A (TTN) | XP_016860312.1:p.Ile7240= | |
| XM_024453094.1:c.43215C>A (TTN) | XP_024308862.1:p.Ile14405= | |
| XM_024453095.1:c.43212C>A (TTN) | XP_024308863.1:p.Ile14404= | |
| XM_024453096.1:c.42645C>A (TTN) | XP_024308864.1:p.Ile14215= | |
| XM_024453097.1:c.39987C>A (TTN) | XP_024308865.1:p.Ile13329= | |
| XM_024453098.1:c.39906C>A (TTN) | XP_024308866.1:p.Ile13302= | |
| XM_024453099.1:c.21669C>A (TTN) | XP_024308867.1:p.Ile7223= | |
| XM_024453100.1:c.11523C>A (TTN) | XP_024308868.1:p.Ile3841= |