Linked Data
ClinVar Variation Id:
223323
dbSNP Id:
rs772121356
gnomAD v4:
2-178557730-G-T
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557730G>T , CM000664.2:g.178557730G>T | GRCh38 |
| NC_000002.11:g.179422457G>T , CM000664.1:g.179422457G>T | GRCh37 |
| NC_000002.10:g.179130703G>T | NCBI36 |
| NG_011618.3:g.278073C>A , LRG_391:g.278073C>A | |
| NG_051363.1:g.39904G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79920C>A (TTN) | ENSP00000343764.6:p.Tyr26640Ter | |
| ENST00000342175.11:c.61005C>A (TTN) | ENSP00000340554.6:p.Tyr20335Ter | |
| ENST00000359218.10:c.60804C>A (TTN) | ENSP00000352154.5:p.Tyr20268Ter | |
| ENST00000342175.10:c.61005C>A (TTN) | ENSP00000340554.6:p.Tyr20335Ter | |
| ENST00000342992.10:c.79920C>A (TTN) | ENSP00000343764.6:p.Tyr26640Ter | |
| ENST00000359218.9:c.60804C>A (TTN) | ENSP00000352154.5:p.Tyr20268Ter | |
| ENST00000460472.6:c.60429C>A (TTN) | ENSP00000434586.1:p.Tyr20143Ter | |
| ENST00000589042.5:c.87624C>A (TTN) MANE Select | ENSP00000467141.1:p.Tyr29208Ter | |
| ENST00000591111.5:c.82701C>A (TTN) | ENSP00000465570.1:p.Tyr27567Ter | |
| ENST00000615779.4:c.82701C>A (TTN) | ENSP00000483597.1:p.Tyr27567Ter | |
| NM_001256850.1:c.82701C>A (TTN) | NP_001243779.1:p.Tyr27567Ter | |
| NM_001267550.2:c.87624C>A (TTN) MANE Select | NP_001254479.2:p.Tyr29208Ter | |
| NM_003319.4:c.60429C>A (TTN) | NP_003310.4:p.Tyr20143Ter | |
| NM_133378.4:c.79920C>A (TTN) | NP_596869.4:p.Tyr26640Ter | |
| NM_133432.3:c.60804C>A (TTN) | NP_597676.3:p.Tyr20268Ter | |
| NM_133437.4:c.61005C>A (TTN) | NP_597681.4:p.Tyr20335Ter | |
| NR_038271.1:n.447-13570G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15369G>T (TTN-AS1) | ||
| XM_011511729.1:c.86721C>A (TTN) | XP_011510031.1:p.Tyr28907Ter | |
| XM_011511730.1:c.60615C>A (TTN) | XP_011510032.1:p.Tyr20205Ter | |
| XM_011511731.1:c.60474C>A (TTN) | XP_011510033.1:p.Tyr20158Ter | |
| XM_017004819.1:c.86517C>A (TTN) | XP_016860308.1:p.Tyr28839Ter | |
| XM_017004820.1:c.81915C>A (TTN) | XP_016860309.1:p.Tyr27305Ter | |
| XM_017004821.1:c.81912C>A (TTN) | XP_016860310.1:p.Tyr27304Ter | |
| XM_017004822.1:c.78954C>A (TTN) | XP_016860311.1:p.Tyr26318Ter | |
| XM_017004823.1:c.60570C>A (TTN) | XP_016860312.1:p.Tyr20190Ter | |
| XM_024453094.1:c.82065C>A (TTN) | XP_024308862.1:p.Tyr27355Ter | |
| XM_024453095.1:c.82062C>A (TTN) | XP_024308863.1:p.Tyr27354Ter | |
| XM_024453096.1:c.81495C>A (TTN) | XP_024308864.1:p.Tyr27165Ter | |
| XM_024453097.1:c.78837C>A (TTN) | XP_024308865.1:p.Tyr26279Ter | |
| XM_024453098.1:c.78756C>A (TTN) | XP_024308866.1:p.Tyr26252Ter | |
| XM_024453099.1:c.60519C>A (TTN) | XP_024308867.1:p.Tyr20173Ter | |
| XM_024453100.1:c.50373C>A (TTN) | XP_024308868.1:p.Tyr16791Ter |