Revel Score:
ENST00000342992
0.279
ENST00000460472
0.279
ENST00000342175
0.279
ENST00000359218
0.279
ENST00000356127
0.279
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580394C>T , CM000664.2:g.178580394C>T | GRCh38 |
| NC_000002.11:g.179445121C>T , CM000664.1:g.179445121C>T | GRCh37 |
| NC_000002.10:g.179153367C>T | NCBI36 |
| NG_011618.3:g.255409G>A , LRG_391:g.255409G>A | |
| NG_051363.1:g.62568C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59281G>A (TTN) | ENSP00000343764.6:p.Ala19761Thr | |
| ENST00000342175.11:c.40366G>A (TTN) | ENSP00000340554.6:p.Ala13456Thr | |
| ENST00000359218.10:c.40165G>A (TTN) | ENSP00000352154.5:p.Ala13389Thr | |
| ENST00000342175.10:c.40366G>A (TTN) | ENSP00000340554.6:p.Ala13456Thr | |
| ENST00000342992.10:c.59281G>A (TTN) | ENSP00000343764.6:p.Ala19761Thr | |
| ENST00000359218.9:c.40165G>A (TTN) | ENSP00000352154.5:p.Ala13389Thr | |
| ENST00000460472.6:c.39790G>A (TTN) | ENSP00000434586.1:p.Ala13264Thr | |
| ENST00000589042.5:c.66985G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala22329Thr | |
| ENST00000591111.5:c.62062G>A (TTN) | ENSP00000465570.1:p.Ala20688Thr | |
| ENST00000615779.4:c.62062G>A (TTN) | ENSP00000483597.1:p.Ala20688Thr | |
| NM_001256850.1:c.62062G>A (TTN) | NP_001243779.1:p.Ala20688Thr | |
| NM_001267550.2:c.66985G>A (TTN) MANE Select | NP_001254479.2:p.Ala22329Thr | |
| NM_003319.4:c.39790G>A (TTN) | NP_003310.4:p.Ala13264Thr | |
| NM_133378.4:c.59281G>A (TTN) | NP_596869.4:p.Ala19761Thr | |
| NM_133432.3:c.40165G>A (TTN) | NP_597676.3:p.Ala13389Thr | |
| NM_133437.4:c.40366G>A (TTN) | NP_597681.4:p.Ala13456Thr | |
| NR_038271.1:n.596+8945C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-2178C>T (TTN-AS1) | ||
| XM_011511729.1:c.66082G>A (TTN) | XP_011510031.1:p.Ala22028Thr | |
| XM_011511730.1:c.39976G>A (TTN) | XP_011510032.1:p.Ala13326Thr | |
| XM_011511731.1:c.39835G>A (TTN) | XP_011510033.1:p.Ala13279Thr | |
| XM_017004819.1:c.65878G>A (TTN) | XP_016860308.1:p.Ala21960Thr | |
| XM_017004820.1:c.61276G>A (TTN) | XP_016860309.1:p.Ala20426Thr | |
| XM_017004821.1:c.61273G>A (TTN) | XP_016860310.1:p.Ala20425Thr | |
| XM_017004822.1:c.58315G>A (TTN) | XP_016860311.1:p.Ala19439Thr | |
| XM_017004823.1:c.39931G>A (TTN) | XP_016860312.1:p.Ala13311Thr | |
| XM_024453094.1:c.61426G>A (TTN) | XP_024308862.1:p.Ala20476Thr | |
| XM_024453095.1:c.61423G>A (TTN) | XP_024308863.1:p.Ala20475Thr | |
| XM_024453096.1:c.60856G>A (TTN) | XP_024308864.1:p.Ala20286Thr | |
| XM_024453097.1:c.58198G>A (TTN) | XP_024308865.1:p.Ala19400Thr | |
| XM_024453098.1:c.58117G>A (TTN) | XP_024308866.1:p.Ala19373Thr | |
| XM_024453099.1:c.39880G>A (TTN) | XP_024308867.1:p.Ala13294Thr | |
| XM_024453100.1:c.29734G>A (TTN) | XP_024308868.1:p.Ala9912Thr |