Linked Data
ClinVar Variation Id:
223277
dbSNP Id:
rs373040154
gnomAD v4:
2-178617388-G-T
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617388G>T , CM000664.2:g.178617388G>T | GRCh38 |
| NC_000002.11:g.179482115G>T , CM000664.1:g.179482115G>T | GRCh37 |
| NC_000002.10:g.179190360G>T | NCBI36 |
| NG_011618.3:g.218415C>A , LRG_391:g.218415C>A | |
| NG_051363.1:g.99562G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39993C>A (TTN) | ENSP00000343764.6:p.Cys13331Ter | |
| ENST00000342175.11:c.21078C>A (TTN) | ENSP00000340554.6:p.Cys7026Ter | |
| ENST00000359218.10:c.20877C>A (TTN) | ENSP00000352154.5:p.Cys6959Ter | |
| ENST00000342175.10:c.21078C>A (TTN) | ENSP00000340554.6:p.Cys7026Ter | |
| ENST00000342992.10:c.39993C>A (TTN) | ENSP00000343764.6:p.Cys13331Ter | |
| ENST00000359218.9:c.20877C>A (TTN) | ENSP00000352154.5:p.Cys6959Ter | |
| ENST00000460472.6:c.20502C>A (TTN) | ENSP00000434586.1:p.Cys6834Ter | |
| ENST00000589042.5:c.47697C>A (TTN) MANE Select | ENSP00000467141.1:p.Cys15899Ter | |
| ENST00000591111.5:c.42774C>A (TTN) | ENSP00000465570.1:p.Cys14258Ter | |
| ENST00000615779.4:c.42774C>A (TTN) | ENSP00000483597.1:p.Cys14258Ter | |
| NM_001256850.1:c.42774C>A (TTN) | NP_001243779.1:p.Cys14258Ter | |
| NM_001267550.2:c.47697C>A (TTN) MANE Select | NP_001254479.2:p.Cys15899Ter | |
| NM_003319.4:c.20502C>A (TTN) | NP_003310.4:p.Cys6834Ter | |
| NM_133378.4:c.39993C>A (TTN) | NP_596869.4:p.Cys13331Ter | |
| NM_133432.3:c.20877C>A (TTN) | NP_597676.3:p.Cys6959Ter | |
| NM_133437.4:c.21078C>A (TTN) | NP_597681.4:p.Cys7026Ter | |
| NR_038271.1:n.1604+2014G>T (TTN-AS1) | ||
| XM_011511729.1:c.46794C>A (TTN) | XP_011510031.1:p.Cys15598Ter | |
| XM_011511730.1:c.20688C>A (TTN) | XP_011510032.1:p.Cys6896Ter | |
| XM_011511731.1:c.20547C>A (TTN) | XP_011510033.1:p.Cys6849Ter | |
| XM_017004819.1:c.46590C>A (TTN) | XP_016860308.1:p.Cys15530Ter | |
| XM_017004820.1:c.41988C>A (TTN) | XP_016860309.1:p.Cys13996Ter | |
| XM_017004821.1:c.41985C>A (TTN) | XP_016860310.1:p.Cys13995Ter | |
| XM_017004822.1:c.39027C>A (TTN) | XP_016860311.1:p.Cys13009Ter | |
| XM_017004823.1:c.20643C>A (TTN) | XP_016860312.1:p.Cys6881Ter | |
| XM_024453094.1:c.42138C>A (TTN) | XP_024308862.1:p.Cys14046Ter | |
| XM_024453095.1:c.42135C>A (TTN) | XP_024308863.1:p.Cys14045Ter | |
| XM_024453096.1:c.41568C>A (TTN) | XP_024308864.1:p.Cys13856Ter | |
| XM_024453097.1:c.38910C>A (TTN) | XP_024308865.1:p.Cys12970Ter | |
| XM_024453098.1:c.38829C>A (TTN) | XP_024308866.1:p.Cys12943Ter | |
| XM_024453099.1:c.20592C>A (TTN) | XP_024308867.1:p.Cys6864Ter | |
| XM_024453100.1:c.10446C>A (TTN) | XP_024308868.1:p.Cys3482Ter |