Linked Data
ClinVar Variation Id:
202423
dbSNP Id:
rs794729300
gnomAD v2:
2-179419237-T-A
gnomAD v3:
2-178554510-T-A
gnomAD v4:
2-178554510-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554510T>A , CM000664.2:g.178554510T>A | GRCh38 |
| NC_000002.11:g.179419237T>A , CM000664.1:g.179419237T>A | GRCh37 |
| NC_000002.10:g.179127483T>A | NCBI36 |
| NG_011618.3:g.281293A>T , LRG_391:g.281293A>T | |
| NG_051363.1:g.36684T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81133A>T (TTN) | ENSP00000343764.6:p.Lys27045Ter | |
| ENST00000342175.11:c.62218A>T (TTN) | ENSP00000340554.6:p.Lys20740Ter | |
| ENST00000359218.10:c.62017A>T (TTN) | ENSP00000352154.5:p.Lys20673Ter | |
| ENST00000342175.10:c.62218A>T (TTN) | ENSP00000340554.6:p.Lys20740Ter | |
| ENST00000342992.10:c.81133A>T (TTN) | ENSP00000343764.6:p.Lys27045Ter | |
| ENST00000359218.9:c.62017A>T (TTN) | ENSP00000352154.5:p.Lys20673Ter | |
| ENST00000460472.6:c.61642A>T (TTN) | ENSP00000434586.1:p.Lys20548Ter | |
| ENST00000589042.5:c.88837A>T (TTN) MANE Select | ENSP00000467141.1:p.Lys29613Ter | |
| ENST00000591111.5:c.83914A>T (TTN) | ENSP00000465570.1:p.Lys27972Ter | |
| ENST00000615779.4:c.83914A>T (TTN) | ENSP00000483597.1:p.Lys27972Ter | |
| NM_001256850.1:c.83914A>T (TTN) | NP_001243779.1:p.Lys27972Ter | |
| NM_001267550.2:c.88837A>T (TTN) MANE Select | NP_001254479.2:p.Lys29613Ter | |
| NM_003319.4:c.61642A>T (TTN) | NP_003310.4:p.Lys20548Ter | |
| NM_133378.4:c.81133A>T (TTN) | NP_596869.4:p.Lys27045Ter | |
| NM_133432.3:c.62017A>T (TTN) | NP_597676.3:p.Lys20673Ter | |
| NM_133437.4:c.62218A>T (TTN) | NP_597681.4:p.Lys20740Ter | |
| NR_038271.1:n.447-16790T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+12149T>A (TTN-AS1) | ||
| XM_011511729.1:c.87934A>T (TTN) | XP_011510031.1:p.Lys29312Ter | |
| XM_011511730.1:c.61828A>T (TTN) | XP_011510032.1:p.Lys20610Ter | |
| XM_011511731.1:c.61687A>T (TTN) | XP_011510033.1:p.Lys20563Ter | |
| XM_017004819.1:c.87730A>T (TTN) | XP_016860308.1:p.Lys29244Ter | |
| XM_017004820.1:c.83128A>T (TTN) | XP_016860309.1:p.Lys27710Ter | |
| XM_017004821.1:c.83125A>T (TTN) | XP_016860310.1:p.Lys27709Ter | |
| XM_017004822.1:c.80167A>T (TTN) | XP_016860311.1:p.Lys26723Ter | |
| XM_017004823.1:c.61783A>T (TTN) | XP_016860312.1:p.Lys20595Ter | |
| XM_024453094.1:c.83278A>T (TTN) | XP_024308862.1:p.Lys27760Ter | |
| XM_024453095.1:c.83275A>T (TTN) | XP_024308863.1:p.Lys27759Ter | |
| XM_024453096.1:c.82708A>T (TTN) | XP_024308864.1:p.Lys27570Ter | |
| XM_024453097.1:c.80050A>T (TTN) | XP_024308865.1:p.Lys26684Ter | |
| XM_024453098.1:c.79969A>T (TTN) | XP_024308866.1:p.Lys26657Ter | |
| XM_024453099.1:c.61732A>T (TTN) | XP_024308867.1:p.Lys20578Ter | |
| XM_024453100.1:c.51586A>T (TTN) | XP_024308868.1:p.Lys17196Ter |