Linked Data
ClinVar Variation Id:
535021
ClinVar RCV Id:
RCV000642778
dbSNP Id:
rs1553597198
gnomAD v4:
2-178568057-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568057G>T , CM000664.2:g.178568057G>T | GRCh38 |
| NC_000002.11:g.179432784G>T , CM000664.1:g.179432784G>T | GRCh37 |
| NC_000002.10:g.179141030G>T | NCBI36 |
| NG_011618.3:g.267746C>A , LRG_391:g.267746C>A | |
| NG_051363.1:g.50231G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70371C>A (TTN) | ENSP00000343764.6:p.Tyr23457Ter | |
| ENST00000342175.11:c.51456C>A (TTN) | ENSP00000340554.6:p.Tyr17152Ter | |
| ENST00000359218.10:c.51255C>A (TTN) | ENSP00000352154.5:p.Tyr17085Ter | |
| ENST00000342175.10:c.51456C>A (TTN) | ENSP00000340554.6:p.Tyr17152Ter | |
| ENST00000342992.10:c.70371C>A (TTN) | ENSP00000343764.6:p.Tyr23457Ter | |
| ENST00000359218.9:c.51255C>A (TTN) | ENSP00000352154.5:p.Tyr17085Ter | |
| ENST00000460472.6:c.50880C>A (TTN) | ENSP00000434586.1:p.Tyr16960Ter | |
| ENST00000589042.5:c.78075C>A (TTN) MANE Select | ENSP00000467141.1:p.Tyr26025Ter | |
| ENST00000591111.5:c.73152C>A (TTN) | ENSP00000465570.1:p.Tyr24384Ter | |
| ENST00000615779.4:c.73152C>A (TTN) | ENSP00000483597.1:p.Tyr24384Ter | |
| NM_001256850.1:c.73152C>A (TTN) | NP_001243779.1:p.Tyr24384Ter | |
| NM_001267550.2:c.78075C>A (TTN) MANE Select | NP_001254479.2:p.Tyr26025Ter | |
| NM_003319.4:c.50880C>A (TTN) | NP_003310.4:p.Tyr16960Ter | |
| NM_133378.4:c.70371C>A (TTN) | NP_596869.4:p.Tyr23457Ter | |
| NM_133432.3:c.51255C>A (TTN) | NP_597676.3:p.Tyr17085Ter | |
| NM_133437.4:c.51456C>A (TTN) | NP_597681.4:p.Tyr17152Ter | |
| NR_038271.1:n.447-3243G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-14515G>T (TTN-AS1) | ||
| XM_011511729.1:c.77172C>A (TTN) | XP_011510031.1:p.Tyr25724Ter | |
| XM_011511730.1:c.51066C>A (TTN) | XP_011510032.1:p.Tyr17022Ter | |
| XM_011511731.1:c.50925C>A (TTN) | XP_011510033.1:p.Tyr16975Ter | |
| XM_017004819.1:c.76968C>A (TTN) | XP_016860308.1:p.Tyr25656Ter | |
| XM_017004820.1:c.72366C>A (TTN) | XP_016860309.1:p.Tyr24122Ter | |
| XM_017004821.1:c.72363C>A (TTN) | XP_016860310.1:p.Tyr24121Ter | |
| XM_017004822.1:c.69405C>A (TTN) | XP_016860311.1:p.Tyr23135Ter | |
| XM_017004823.1:c.51021C>A (TTN) | XP_016860312.1:p.Tyr17007Ter | |
| XM_024453094.1:c.72516C>A (TTN) | XP_024308862.1:p.Tyr24172Ter | |
| XM_024453095.1:c.72513C>A (TTN) | XP_024308863.1:p.Tyr24171Ter | |
| XM_024453096.1:c.71946C>A (TTN) | XP_024308864.1:p.Tyr23982Ter | |
| XM_024453097.1:c.69288C>A (TTN) | XP_024308865.1:p.Tyr23096Ter | |
| XM_024453098.1:c.69207C>A (TTN) | XP_024308866.1:p.Tyr23069Ter | |
| XM_024453099.1:c.50970C>A (TTN) | XP_024308867.1:p.Tyr16990Ter | |
| XM_024453100.1:c.40824C>A (TTN) | XP_024308868.1:p.Tyr13608Ter |