Linked Data
ClinVar Variation Id:
466665
ClinVar RCV Id:
RCV000550796
dbSNP Id:
rs1553562022
gnomAD v4:
2-178560116-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560116C>T , CM000664.2:g.178560116C>T | GRCh38 |
| NC_000002.11:g.179424843C>T , CM000664.1:g.179424843C>T | GRCh37 |
| NC_000002.10:g.179133089C>T | NCBI36 |
| NG_011618.3:g.275687G>A , LRG_391:g.275687G>A | |
| NG_051363.1:g.42290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78312G>A (TTN) | ENSP00000343764.6:p.Trp26104Ter | |
| ENST00000342175.11:c.59397G>A (TTN) | ENSP00000340554.6:p.Trp19799Ter | |
| ENST00000359218.10:c.59196G>A (TTN) | ENSP00000352154.5:p.Trp19732Ter | |
| ENST00000342175.10:c.59397G>A (TTN) | ENSP00000340554.6:p.Trp19799Ter | |
| ENST00000342992.10:c.78312G>A (TTN) | ENSP00000343764.6:p.Trp26104Ter | |
| ENST00000359218.9:c.59196G>A (TTN) | ENSP00000352154.5:p.Trp19732Ter | |
| ENST00000460472.6:c.58821G>A (TTN) | ENSP00000434586.1:p.Trp19607Ter | |
| ENST00000589042.5:c.86016G>A (TTN) MANE Select | ENSP00000467141.1:p.Trp28672Ter | |
| ENST00000591111.5:c.81093G>A (TTN) | ENSP00000465570.1:p.Trp27031Ter | |
| ENST00000615779.4:c.81093G>A (TTN) | ENSP00000483597.1:p.Trp27031Ter | |
| NM_001256850.1:c.81093G>A (TTN) | NP_001243779.1:p.Trp27031Ter | |
| NM_001267550.2:c.86016G>A (TTN) MANE Select | NP_001254479.2:p.Trp28672Ter | |
| NM_003319.4:c.58821G>A (TTN) | NP_003310.4:p.Trp19607Ter | |
| NM_133378.4:c.78312G>A (TTN) | NP_596869.4:p.Trp26104Ter | |
| NM_133432.3:c.59196G>A (TTN) | NP_597676.3:p.Trp19732Ter | |
| NM_133437.4:c.59397G>A (TTN) | NP_597681.4:p.Trp19799Ter | |
| NR_038271.1:n.447-11184C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+17755C>T (TTN-AS1) | ||
| XM_011511729.1:c.85113G>A (TTN) | XP_011510031.1:p.Trp28371Ter | |
| XM_011511730.1:c.59007G>A (TTN) | XP_011510032.1:p.Trp19669Ter | |
| XM_011511731.1:c.58866G>A (TTN) | XP_011510033.1:p.Trp19622Ter | |
| XM_017004819.1:c.84909G>A (TTN) | XP_016860308.1:p.Trp28303Ter | |
| XM_017004820.1:c.80307G>A (TTN) | XP_016860309.1:p.Trp26769Ter | |
| XM_017004821.1:c.80304G>A (TTN) | XP_016860310.1:p.Trp26768Ter | |
| XM_017004822.1:c.77346G>A (TTN) | XP_016860311.1:p.Trp25782Ter | |
| XM_017004823.1:c.58962G>A (TTN) | XP_016860312.1:p.Trp19654Ter | |
| XM_024453094.1:c.80457G>A (TTN) | XP_024308862.1:p.Trp26819Ter | |
| XM_024453095.1:c.80454G>A (TTN) | XP_024308863.1:p.Trp26818Ter | |
| XM_024453096.1:c.79887G>A (TTN) | XP_024308864.1:p.Trp26629Ter | |
| XM_024453097.1:c.77229G>A (TTN) | XP_024308865.1:p.Trp25743Ter | |
| XM_024453098.1:c.77148G>A (TTN) | XP_024308866.1:p.Trp25716Ter | |
| XM_024453099.1:c.58911G>A (TTN) | XP_024308867.1:p.Trp19637Ter | |
| XM_024453100.1:c.48765G>A (TTN) | XP_024308868.1:p.Trp16255Ter |