Linked Data
ClinVar Variation Id:
263764
dbSNP Id:
rs886038916
gnomAD v4:
2-178554094-G-A
PubMed:
PMID:22335739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554094G>A , CM000664.2:g.178554094G>A | GRCh38 |
| NC_000002.11:g.179418821G>A , CM000664.1:g.179418821G>A | GRCh37 |
| NC_000002.10:g.179127067G>A | NCBI36 |
| NG_011618.3:g.281709C>T , LRG_391:g.281709C>T | |
| NG_051363.1:g.36268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81313C>T (TTN) | ENSP00000343764.6:p.Arg27105Ter | |
| ENST00000342175.11:c.62398C>T (TTN) | ENSP00000340554.6:p.Arg20800Ter | |
| ENST00000359218.10:c.62197C>T (TTN) | ENSP00000352154.5:p.Arg20733Ter | |
| ENST00000342175.10:c.62398C>T (TTN) | ENSP00000340554.6:p.Arg20800Ter | |
| ENST00000342992.10:c.81313C>T (TTN) | ENSP00000343764.6:p.Arg27105Ter | |
| ENST00000359218.9:c.62197C>T (TTN) | ENSP00000352154.5:p.Arg20733Ter | |
| ENST00000460472.6:c.61822C>T (TTN) | ENSP00000434586.1:p.Arg20608Ter | |
| ENST00000589042.5:c.89017C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg29673Ter | |
| ENST00000591111.5:c.84094C>T (TTN) | ENSP00000465570.1:p.Arg28032Ter | |
| ENST00000615779.4:c.84094C>T (TTN) | ENSP00000483597.1:p.Arg28032Ter | |
| NM_001256850.1:c.84094C>T (TTN) | NP_001243779.1:p.Arg28032Ter | |
| NM_001267550.2:c.89017C>T (TTN) MANE Select | NP_001254479.2:p.Arg29673Ter | |
| NM_003319.4:c.61822C>T (TTN) | NP_003310.4:p.Arg20608Ter | |
| NM_133378.4:c.81313C>T (TTN) | NP_596869.4:p.Arg27105Ter | |
| NM_133432.3:c.62197C>T (TTN) | NP_597676.3:p.Arg20733Ter | |
| NM_133437.4:c.62398C>T (TTN) | NP_597681.4:p.Arg20800Ter | |
| NR_038271.1:n.447-17206G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+11733G>A (TTN-AS1) | ||
| XM_011511729.1:c.88114C>T (TTN) | XP_011510031.1:p.Arg29372Ter | |
| XM_011511730.1:c.62008C>T (TTN) | XP_011510032.1:p.Arg20670Ter | |
| XM_011511731.1:c.61867C>T (TTN) | XP_011510033.1:p.Arg20623Ter | |
| XM_017004819.1:c.87910C>T (TTN) | XP_016860308.1:p.Arg29304Ter | |
| XM_017004820.1:c.83308C>T (TTN) | XP_016860309.1:p.Arg27770Ter | |
| XM_017004821.1:c.83305C>T (TTN) | XP_016860310.1:p.Arg27769Ter | |
| XM_017004822.1:c.80347C>T (TTN) | XP_016860311.1:p.Arg26783Ter | |
| XM_017004823.1:c.61963C>T (TTN) | XP_016860312.1:p.Arg20655Ter | |
| XM_024453094.1:c.83458C>T (TTN) | XP_024308862.1:p.Arg27820Ter | |
| XM_024453095.1:c.83455C>T (TTN) | XP_024308863.1:p.Arg27819Ter | |
| XM_024453096.1:c.82888C>T (TTN) | XP_024308864.1:p.Arg27630Ter | |
| XM_024453097.1:c.80230C>T (TTN) | XP_024308865.1:p.Arg26744Ter | |
| XM_024453098.1:c.80149C>T (TTN) | XP_024308866.1:p.Arg26717Ter | |
| XM_024453099.1:c.61912C>T (TTN) | XP_024308867.1:p.Arg20638Ter | |
| XM_024453100.1:c.51766C>T (TTN) | XP_024308868.1:p.Arg17256Ter |