Linked Data
ClinVar Variation Id:
223387
dbSNP Id:
rs869312119
gnomAD v4:
2-178561756-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561756G>A , CM000664.2:g.178561756G>A | GRCh38 |
| NC_000002.11:g.179426483G>A , CM000664.1:g.179426483G>A | GRCh37 |
| NC_000002.10:g.179134729G>A | NCBI36 |
| NG_011618.3:g.274047C>T , LRG_391:g.274047C>T | |
| NG_051363.1:g.43930G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76672C>T (TTN) | ENSP00000343764.6:p.Gln25558Ter | |
| ENST00000342175.11:c.57757C>T (TTN) | ENSP00000340554.6:p.Gln19253Ter | |
| ENST00000359218.10:c.57556C>T (TTN) | ENSP00000352154.5:p.Gln19186Ter | |
| ENST00000342175.10:c.57757C>T (TTN) | ENSP00000340554.6:p.Gln19253Ter | |
| ENST00000342992.10:c.76672C>T (TTN) | ENSP00000343764.6:p.Gln25558Ter | |
| ENST00000359218.9:c.57556C>T (TTN) | ENSP00000352154.5:p.Gln19186Ter | |
| ENST00000460472.6:c.57181C>T (TTN) | ENSP00000434586.1:p.Gln19061Ter | |
| ENST00000589042.5:c.84376C>T (TTN) MANE Select | ENSP00000467141.1:p.Gln28126Ter | |
| ENST00000591111.5:c.79453C>T (TTN) | ENSP00000465570.1:p.Gln26485Ter | |
| ENST00000615779.4:c.79453C>T (TTN) | ENSP00000483597.1:p.Gln26485Ter | |
| NM_001256850.1:c.79453C>T (TTN) | NP_001243779.1:p.Gln26485Ter | |
| NM_001267550.2:c.84376C>T (TTN) MANE Select | NP_001254479.2:p.Gln28126Ter | |
| NM_003319.4:c.57181C>T (TTN) | NP_003310.4:p.Gln19061Ter | |
| NM_133378.4:c.76672C>T (TTN) | NP_596869.4:p.Gln25558Ter | |
| NM_133432.3:c.57556C>T (TTN) | NP_597676.3:p.Gln19186Ter | |
| NM_133437.4:c.57757C>T (TTN) | NP_597681.4:p.Gln19253Ter | |
| NR_038271.1:n.447-9544G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+19395G>A (TTN-AS1) | ||
| XM_011511729.1:c.83473C>T (TTN) | XP_011510031.1:p.Gln27825Ter | |
| XM_011511730.1:c.57367C>T (TTN) | XP_011510032.1:p.Gln19123Ter | |
| XM_011511731.1:c.57226C>T (TTN) | XP_011510033.1:p.Gln19076Ter | |
| XM_017004819.1:c.83269C>T (TTN) | XP_016860308.1:p.Gln27757Ter | |
| XM_017004820.1:c.78667C>T (TTN) | XP_016860309.1:p.Gln26223Ter | |
| XM_017004821.1:c.78664C>T (TTN) | XP_016860310.1:p.Gln26222Ter | |
| XM_017004822.1:c.75706C>T (TTN) | XP_016860311.1:p.Gln25236Ter | |
| XM_017004823.1:c.57322C>T (TTN) | XP_016860312.1:p.Gln19108Ter | |
| XM_024453094.1:c.78817C>T (TTN) | XP_024308862.1:p.Gln26273Ter | |
| XM_024453095.1:c.78814C>T (TTN) | XP_024308863.1:p.Gln26272Ter | |
| XM_024453096.1:c.78247C>T (TTN) | XP_024308864.1:p.Gln26083Ter | |
| XM_024453097.1:c.75589C>T (TTN) | XP_024308865.1:p.Gln25197Ter | |
| XM_024453098.1:c.75508C>T (TTN) | XP_024308866.1:p.Gln25170Ter | |
| XM_024453099.1:c.57271C>T (TTN) | XP_024308867.1:p.Gln19091Ter | |
| XM_024453100.1:c.47125C>T (TTN) | XP_024308868.1:p.Gln15709Ter |