Linked Data
ClinVar Variation Id:
420810
ClinVar RCV Id:
RCV000479098
dbSNP Id:
rs1064794716
gnomAD v4:
2-178581501-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581501A>C , CM000664.2:g.178581501A>C | GRCh38 |
| NC_000002.11:g.179446228A>C , CM000664.1:g.179446228A>C | GRCh37 |
| NC_000002.10:g.179154474A>C | NCBI36 |
| NG_011618.3:g.254302T>G , LRG_391:g.254302T>G | |
| NG_051363.1:g.63675A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.59063T>G (TTN) | ENSP00000343764.6:p.Leu19688Ter | |
| ENST00000342175.11:c.40148T>G (TTN) | ENSP00000340554.6:p.Leu13383Ter | |
| ENST00000359218.10:c.39947T>G (TTN) | ENSP00000352154.5:p.Leu13316Ter | |
| ENST00000342175.10:c.40148T>G (TTN) | ENSP00000340554.6:p.Leu13383Ter | |
| ENST00000342992.10:c.59063T>G (TTN) | ENSP00000343764.6:p.Leu19688Ter | |
| ENST00000359218.9:c.39947T>G (TTN) | ENSP00000352154.5:p.Leu13316Ter | |
| ENST00000460472.6:c.39572T>G (TTN) | ENSP00000434586.1:p.Leu13191Ter | |
| ENST00000589042.5:c.66767T>G (TTN) MANE Select | ENSP00000467141.1:p.Leu22256Ter | |
| ENST00000591111.5:c.61844T>G (TTN) | ENSP00000465570.1:p.Leu20615Ter | |
| ENST00000615779.4:c.61844T>G (TTN) | ENSP00000483597.1:p.Leu20615Ter | |
| NM_001256850.1:c.61844T>G (TTN) | NP_001243779.1:p.Leu20615Ter | |
| NM_001267550.2:c.66767T>G (TTN) MANE Select | NP_001254479.2:p.Leu22256Ter | |
| NM_003319.4:c.39572T>G (TTN) | NP_003310.4:p.Leu13191Ter | |
| NM_133378.4:c.59063T>G (TTN) | NP_596869.4:p.Leu19688Ter | |
| NM_133432.3:c.39947T>G (TTN) | NP_597676.3:p.Leu13316Ter | |
| NM_133437.4:c.40148T>G (TTN) | NP_597681.4:p.Leu13383Ter | |
| NR_038271.1:n.596+10052A>C (TTN-AS1) | ||
| NR_038272.1:n.2044-1071A>C (TTN-AS1) | ||
| XM_011511729.1:c.65864T>G (TTN) | XP_011510031.1:p.Leu21955Ter | |
| XM_011511730.1:c.39758T>G (TTN) | XP_011510032.1:p.Leu13253Ter | |
| XM_011511731.1:c.39617T>G (TTN) | XP_011510033.1:p.Leu13206Ter | |
| XM_017004819.1:c.65660T>G (TTN) | XP_016860308.1:p.Leu21887Ter | |
| XM_017004820.1:c.61058T>G (TTN) | XP_016860309.1:p.Leu20353Ter | |
| XM_017004821.1:c.61055T>G (TTN) | XP_016860310.1:p.Leu20352Ter | |
| XM_017004822.1:c.58097T>G (TTN) | XP_016860311.1:p.Leu19366Ter | |
| XM_017004823.1:c.39713T>G (TTN) | XP_016860312.1:p.Leu13238Ter | |
| XM_024453094.1:c.61208T>G (TTN) | XP_024308862.1:p.Leu20403Ter | |
| XM_024453095.1:c.61205T>G (TTN) | XP_024308863.1:p.Leu20402Ter | |
| XM_024453096.1:c.60638T>G (TTN) | XP_024308864.1:p.Leu20213Ter | |
| XM_024453097.1:c.57980T>G (TTN) | XP_024308865.1:p.Leu19327Ter | |
| XM_024453098.1:c.57899T>G (TTN) | XP_024308866.1:p.Leu19300Ter | |
| XM_024453099.1:c.39662T>G (TTN) | XP_024308867.1:p.Leu13221Ter | |
| XM_024453100.1:c.29516T>G (TTN) | XP_024308868.1:p.Leu9839Ter |