UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
178197
ClinVar RCV Id:
RCV000154927
RCV000487687
RCV001086131
RCV001131379
RCV001134378
RCV001131378
RCV001131380
RCV001134377
RCV002321642
RCV003486694
dbSNP Id:
rs79406408
ExAC:
2:179443675 G / A
gnomAD v2:
2-179443675-G-A
gnomAD v3:
2-178578948-G-A
gnomAD v4:
2-178578948-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578948G>A , CM000664.2:g.178578948G>A | GRCh38 |
| NC_000002.11:g.179443675G>A , CM000664.1:g.179443675G>A | GRCh37 |
| NC_000002.10:g.179151921G>A | NCBI36 |
| NG_011618.3:g.256855C>T , LRG_391:g.256855C>T | |
| NG_051363.1:g.61122G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60378C>T (TTN) | ENSP00000343764.6:p.Cys20126= | |
| ENST00000342175.11:c.41463C>T (TTN) | ENSP00000340554.6:p.Cys13821= | |
| ENST00000359218.10:c.41262C>T (TTN) | ENSP00000352154.5:p.Cys13754= | |
| ENST00000342175.10:c.41463C>T (TTN) | ENSP00000340554.6:p.Cys13821= | |
| ENST00000342992.10:c.60378C>T (TTN) | ENSP00000343764.6:p.Cys20126= | |
| ENST00000359218.9:c.41262C>T (TTN) | ENSP00000352154.5:p.Cys13754= | |
| ENST00000460472.6:c.40887C>T (TTN) | ENSP00000434586.1:p.Cys13629= | |
| ENST00000589042.5:c.68082C>T (TTN) MANE Select | ENSP00000467141.1:p.Cys22694= | |
| ENST00000591111.5:c.63159C>T (TTN) | ENSP00000465570.1:p.Cys21053= | |
| ENST00000615779.4:c.63159C>T (TTN) | ENSP00000483597.1:p.Cys21053= | |
| NM_001256850.1:c.63159C>T (TTN) | NP_001243779.1:p.Cys21053= | |
| NM_001267550.2:c.68082C>T (TTN) MANE Select | NP_001254479.2:p.Cys22694= | |
| NM_003319.4:c.40887C>T (TTN) | NP_003310.4:p.Cys13629= | |
| NM_133378.4:c.60378C>T (TTN) | NP_596869.4:p.Cys20126= | |
| NM_133432.3:c.41262C>T (TTN) | NP_597676.3:p.Cys13754= | |
| NM_133437.4:c.41463C>T (TTN) | NP_597681.4:p.Cys13821= | |
| NR_038271.1:n.596+7499G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-3624G>A (TTN-AS1) | ||
| XM_011511729.1:c.67179C>T (TTN) | XP_011510031.1:p.Cys22393= | |
| XM_011511730.1:c.41073C>T (TTN) | XP_011510032.1:p.Cys13691= | |
| XM_011511731.1:c.40932C>T (TTN) | XP_011510033.1:p.Cys13644= | |
| XM_017004819.1:c.66975C>T (TTN) | XP_016860308.1:p.Cys22325= | |
| XM_017004820.1:c.62373C>T (TTN) | XP_016860309.1:p.Cys20791= | |
| XM_017004821.1:c.62370C>T (TTN) | XP_016860310.1:p.Cys20790= | |
| XM_017004822.1:c.59412C>T (TTN) | XP_016860311.1:p.Cys19804= | |
| XM_017004823.1:c.41028C>T (TTN) | XP_016860312.1:p.Cys13676= | |
| XM_024453094.1:c.62523C>T (TTN) | XP_024308862.1:p.Cys20841= | |
| XM_024453095.1:c.62520C>T (TTN) | XP_024308863.1:p.Cys20840= | |
| XM_024453096.1:c.61953C>T (TTN) | XP_024308864.1:p.Cys20651= | |
| XM_024453097.1:c.59295C>T (TTN) | XP_024308865.1:p.Cys19765= | |
| XM_024453098.1:c.59214C>T (TTN) | XP_024308866.1:p.Cys19738= | |
| XM_024453099.1:c.40977C>T (TTN) | XP_024308867.1:p.Cys13659= | |
| XM_024453100.1:c.30831C>T (TTN) | XP_024308868.1:p.Cys10277= |