Linked Data
ClinVar Variation Id:
429437
dbSNP Id:
rs1131691381
gnomAD v2:
2-179470423-C-A
gnomAD v4:
2-178605696-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605696C>A , CM000664.2:g.178605696C>A | GRCh38 |
| NC_000002.11:g.179470423C>A , CM000664.1:g.179470423C>A | GRCh37 |
| NC_000002.10:g.179178668C>A | NCBI36 |
| NG_011618.3:g.230107G>T , LRG_391:g.230107G>T | |
| NG_051363.1:g.87870C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45895G>T (TTN) | ENSP00000343764.6:p.Glu15299Ter | |
| ENST00000342175.11:c.26980G>T (TTN) | ENSP00000340554.6:p.Glu8994Ter | |
| ENST00000359218.10:c.26779G>T (TTN) | ENSP00000352154.5:p.Glu8927Ter | |
| ENST00000342175.10:c.26980G>T (TTN) | ENSP00000340554.6:p.Glu8994Ter | |
| ENST00000342992.10:c.45895G>T (TTN) | ENSP00000343764.6:p.Glu15299Ter | |
| ENST00000359218.9:c.26779G>T (TTN) | ENSP00000352154.5:p.Glu8927Ter | |
| ENST00000460472.6:c.26404G>T (TTN) | ENSP00000434586.1:p.Glu8802Ter | |
| ENST00000589042.5:c.53599G>T (TTN) MANE Select | ENSP00000467141.1:p.Glu17867Ter | |
| ENST00000591111.5:c.48676G>T (TTN) | ENSP00000465570.1:p.Glu16226Ter | |
| ENST00000615779.4:c.48676G>T (TTN) | ENSP00000483597.1:p.Glu16226Ter | |
| NM_001256850.1:c.48676G>T (TTN) | NP_001243779.1:p.Glu16226Ter | |
| NM_001267550.2:c.53599G>T (TTN) MANE Select | NP_001254479.2:p.Glu17867Ter | |
| NM_003319.4:c.26404G>T (TTN) | NP_003310.4:p.Glu8802Ter | |
| NM_133378.4:c.45895G>T (TTN) | NP_596869.4:p.Glu15299Ter | |
| NM_133432.3:c.26779G>T (TTN) | NP_597676.3:p.Glu8927Ter | |
| NM_133437.4:c.26980G>T (TTN) | NP_597681.4:p.Glu8994Ter | |
| NR_038271.1:n.683-2471C>A (TTN-AS1) | ||
| XM_011511729.1:c.52696G>T (TTN) | XP_011510031.1:p.Glu17566Ter | |
| XM_011511730.1:c.26590G>T (TTN) | XP_011510032.1:p.Glu8864Ter | |
| XM_011511731.1:c.26449G>T (TTN) | XP_011510033.1:p.Glu8817Ter | |
| XM_017004819.1:c.52492G>T (TTN) | XP_016860308.1:p.Glu17498Ter | |
| XM_017004820.1:c.47890G>T (TTN) | XP_016860309.1:p.Glu15964Ter | |
| XM_017004821.1:c.47887G>T (TTN) | XP_016860310.1:p.Glu15963Ter | |
| XM_017004822.1:c.44929G>T (TTN) | XP_016860311.1:p.Glu14977Ter | |
| XM_017004823.1:c.26545G>T (TTN) | XP_016860312.1:p.Glu8849Ter | |
| XM_024453094.1:c.48040G>T (TTN) | XP_024308862.1:p.Glu16014Ter | |
| XM_024453095.1:c.48037G>T (TTN) | XP_024308863.1:p.Glu16013Ter | |
| XM_024453096.1:c.47470G>T (TTN) | XP_024308864.1:p.Glu15824Ter | |
| XM_024453097.1:c.44812G>T (TTN) | XP_024308865.1:p.Glu14938Ter | |
| XM_024453098.1:c.44731G>T (TTN) | XP_024308866.1:p.Glu14911Ter | |
| XM_024453099.1:c.26494G>T (TTN) | XP_024308867.1:p.Glu8832Ter | |
| XM_024453100.1:c.16348G>T (TTN) | XP_024308868.1:p.Glu5450Ter |