Revel Score:
ENST00000342992
0.247
ENST00000460472
0.247
ENST00000342175
0.247
ENST00000359218
0.247
ENST00000356127
0.247
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010888 (NFE)
Genomes Max Group AF
0.00015893 (NFE)
Exomes Max Group AF
0.00010117 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609740G>A , CM000664.2:g.178609740G>A | GRCh38 |
| NC_000002.11:g.179474467G>A , CM000664.1:g.179474467G>A | GRCh37 |
| NC_000002.10:g.179182712G>A | NCBI36 |
| NG_011618.3:g.226063C>T , LRG_391:g.226063C>T | |
| NG_051363.1:g.91914G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43979C>T (TTN) | ENSP00000343764.6:p.Ala14660Val | |
| ENST00000342175.11:c.25064C>T (TTN) | ENSP00000340554.6:p.Ala8355Val | |
| ENST00000359218.10:c.24863C>T (TTN) | ENSP00000352154.5:p.Ala8288Val | |
| ENST00000342175.10:c.25064C>T (TTN) | ENSP00000340554.6:p.Ala8355Val | |
| ENST00000342992.10:c.43979C>T (TTN) | ENSP00000343764.6:p.Ala14660Val | |
| ENST00000359218.9:c.24863C>T (TTN) | ENSP00000352154.5:p.Ala8288Val | |
| ENST00000460472.6:c.24488C>T (TTN) | ENSP00000434586.1:p.Ala8163Val | |
| ENST00000589042.5:c.51683C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala17228Val | |
| ENST00000591111.5:c.46760C>T (TTN) | ENSP00000465570.1:p.Ala15587Val | |
| ENST00000615779.4:c.46760C>T (TTN) | ENSP00000483597.1:p.Ala15587Val | |
| NM_001256850.1:c.46760C>T (TTN) | NP_001243779.1:p.Ala15587Val | |
| NM_001267550.2:c.51683C>T (TTN) MANE Select | NP_001254479.2:p.Ala17228Val | |
| NM_003319.4:c.24488C>T (TTN) | NP_003310.4:p.Ala8163Val | |
| NM_133378.4:c.43979C>T (TTN) | NP_596869.4:p.Ala14660Val | |
| NM_133432.3:c.24863C>T (TTN) | NP_597676.3:p.Ala8288Val | |
| NM_133437.4:c.25064C>T (TTN) | NP_597681.4:p.Ala8355Val | |
| NR_038271.1:n.782+1474G>A (TTN-AS1) | ||
| XM_011511729.1:c.50780C>T (TTN) | XP_011510031.1:p.Ala16927Val | |
| XM_011511730.1:c.24674C>T (TTN) | XP_011510032.1:p.Ala8225Val | |
| XM_011511731.1:c.24533C>T (TTN) | XP_011510033.1:p.Ala8178Val | |
| XM_017004819.1:c.50576C>T (TTN) | XP_016860308.1:p.Ala16859Val | |
| XM_017004820.1:c.45974C>T (TTN) | XP_016860309.1:p.Ala15325Val | |
| XM_017004821.1:c.45971C>T (TTN) | XP_016860310.1:p.Ala15324Val | |
| XM_017004822.1:c.43013C>T (TTN) | XP_016860311.1:p.Ala14338Val | |
| XM_017004823.1:c.24629C>T (TTN) | XP_016860312.1:p.Ala8210Val | |
| XM_024453094.1:c.46124C>T (TTN) | XP_024308862.1:p.Ala15375Val | |
| XM_024453095.1:c.46121C>T (TTN) | XP_024308863.1:p.Ala15374Val | |
| XM_024453096.1:c.45554C>T (TTN) | XP_024308864.1:p.Ala15185Val | |
| XM_024453097.1:c.42896C>T (TTN) | XP_024308865.1:p.Ala14299Val | |
| XM_024453098.1:c.42815C>T (TTN) | XP_024308866.1:p.Ala14272Val | |
| XM_024453099.1:c.24578C>T (TTN) | XP_024308867.1:p.Ala8193Val | |
| XM_024453100.1:c.14432C>T (TTN) | XP_024308868.1:p.Ala4811Val |