Linked Data
ClinVar Variation Id:
238860
ClinVar RCV Id:
RCV000229423
RCV002500774
RCV003147423
RCV003147425
RCV003147424
RCV003147426
RCV003147427
RCV003147428
dbSNP Id:
rs878854428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557087C>T , CM000664.2:g.178557087C>T | GRCh38 |
| NC_000002.11:g.179421814C>T , CM000664.1:g.179421814C>T | GRCh37 |
| NC_000002.10:g.179130060C>T | NCBI36 |
| NG_011618.3:g.278716G>A , LRG_391:g.278716G>A | |
| NG_051363.1:g.39261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80363G>A (TTN) | ENSP00000343764.6:p.Trp26788Ter | |
| ENST00000342175.11:c.61448G>A (TTN) | ENSP00000340554.6:p.Trp20483Ter | |
| ENST00000359218.10:c.61247G>A (TTN) | ENSP00000352154.5:p.Trp20416Ter | |
| ENST00000342175.10:c.61448G>A (TTN) | ENSP00000340554.6:p.Trp20483Ter | |
| ENST00000342992.10:c.80363G>A (TTN) | ENSP00000343764.6:p.Trp26788Ter | |
| ENST00000359218.9:c.61247G>A (TTN) | ENSP00000352154.5:p.Trp20416Ter | |
| ENST00000460472.6:c.60872G>A (TTN) | ENSP00000434586.1:p.Trp20291Ter | |
| ENST00000589042.5:c.88067G>A (TTN) MANE Select | ENSP00000467141.1:p.Trp29356Ter | |
| ENST00000591111.5:c.83144G>A (TTN) | ENSP00000465570.1:p.Trp27715Ter | |
| ENST00000615779.4:c.83144G>A (TTN) | ENSP00000483597.1:p.Trp27715Ter | |
| NM_001256850.1:c.83144G>A (TTN) | NP_001243779.1:p.Trp27715Ter | |
| NM_001267550.2:c.88067G>A (TTN) MANE Select | NP_001254479.2:p.Trp29356Ter | |
| NM_003319.4:c.60872G>A (TTN) | NP_003310.4:p.Trp20291Ter | |
| NM_133378.4:c.80363G>A (TTN) | NP_596869.4:p.Trp26788Ter | |
| NM_133432.3:c.61247G>A (TTN) | NP_597676.3:p.Trp20416Ter | |
| NM_133437.4:c.61448G>A (TTN) | NP_597681.4:p.Trp20483Ter | |
| NR_038271.1:n.447-14213C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+14726C>T (TTN-AS1) | ||
| XM_011511729.1:c.87164G>A (TTN) | XP_011510031.1:p.Trp29055Ter | |
| XM_011511730.1:c.61058G>A (TTN) | XP_011510032.1:p.Trp20353Ter | |
| XM_011511731.1:c.60917G>A (TTN) | XP_011510033.1:p.Trp20306Ter | |
| XM_017004819.1:c.86960G>A (TTN) | XP_016860308.1:p.Trp28987Ter | |
| XM_017004820.1:c.82358G>A (TTN) | XP_016860309.1:p.Trp27453Ter | |
| XM_017004821.1:c.82355G>A (TTN) | XP_016860310.1:p.Trp27452Ter | |
| XM_017004822.1:c.79397G>A (TTN) | XP_016860311.1:p.Trp26466Ter | |
| XM_017004823.1:c.61013G>A (TTN) | XP_016860312.1:p.Trp20338Ter | |
| XM_024453094.1:c.82508G>A (TTN) | XP_024308862.1:p.Trp27503Ter | |
| XM_024453095.1:c.82505G>A (TTN) | XP_024308863.1:p.Trp27502Ter | |
| XM_024453096.1:c.81938G>A (TTN) | XP_024308864.1:p.Trp27313Ter | |
| XM_024453097.1:c.79280G>A (TTN) | XP_024308865.1:p.Trp26427Ter | |
| XM_024453098.1:c.79199G>A (TTN) | XP_024308866.1:p.Trp26400Ter | |
| XM_024453099.1:c.60962G>A (TTN) | XP_024308867.1:p.Trp20321Ter | |
| XM_024453100.1:c.50816G>A (TTN) | XP_024308868.1:p.Trp16939Ter |