Revel Score:
ENST00000342992
0.801
ENST00000460472
0.801
ENST00000342175
0.801
ENST00000359218
0.801
ENST00000356127
0.801
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01103134 (MID)
Genomes Max Group AF
0.01124379 (NFE)
Exomes Max Group AF
0.0106491 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607496A>G , CM000664.2:g.178607496A>G | GRCh38 |
| NC_000002.11:g.179472223A>G , CM000664.1:g.179472223A>G | GRCh37 |
| NC_000002.10:g.179180468A>G | NCBI36 |
| NG_011618.3:g.228307T>C , LRG_391:g.228307T>C | |
| NG_051363.1:g.89670A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45488T>C (TTN) | ENSP00000343764.6:p.Ile15163Thr | |
| ENST00000342175.11:c.26573T>C (TTN) | ENSP00000340554.6:p.Ile8858Thr | |
| ENST00000359218.10:c.26372T>C (TTN) | ENSP00000352154.5:p.Ile8791Thr | |
| ENST00000342175.10:c.26573T>C (TTN) | ENSP00000340554.6:p.Ile8858Thr | |
| ENST00000342992.10:c.45488T>C (TTN) | ENSP00000343764.6:p.Ile15163Thr | |
| ENST00000359218.9:c.26372T>C (TTN) | ENSP00000352154.5:p.Ile8791Thr | |
| ENST00000460472.6:c.25997T>C (TTN) | ENSP00000434586.1:p.Ile8666Thr | |
| ENST00000589042.5:c.53192T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile17731Thr | |
| ENST00000591111.5:c.48269T>C (TTN) | ENSP00000465570.1:p.Ile16090Thr | |
| ENST00000615779.4:c.48269T>C (TTN) | ENSP00000483597.1:p.Ile16090Thr | |
| NM_001256850.1:c.48269T>C (TTN) | NP_001243779.1:p.Ile16090Thr | |
| NM_001267550.2:c.53192T>C (TTN) MANE Select | NP_001254479.2:p.Ile17731Thr | |
| NM_003319.4:c.25997T>C (TTN) | NP_003310.4:p.Ile8666Thr | |
| NM_133378.4:c.45488T>C (TTN) | NP_596869.4:p.Ile15163Thr | |
| NM_133432.3:c.26372T>C (TTN) | NP_597676.3:p.Ile8791Thr | |
| NM_133437.4:c.26573T>C (TTN) | NP_597681.4:p.Ile8858Thr | |
| NR_038271.1:n.683-671A>G (TTN-AS1) | ||
| XM_011511729.1:c.52289T>C (TTN) | XP_011510031.1:p.Ile17430Thr | |
| XM_011511730.1:c.26183T>C (TTN) | XP_011510032.1:p.Ile8728Thr | |
| XM_011511731.1:c.26042T>C (TTN) | XP_011510033.1:p.Ile8681Thr | |
| XM_017004819.1:c.52085T>C (TTN) | XP_016860308.1:p.Ile17362Thr | |
| XM_017004820.1:c.47483T>C (TTN) | XP_016860309.1:p.Ile15828Thr | |
| XM_017004821.1:c.47480T>C (TTN) | XP_016860310.1:p.Ile15827Thr | |
| XM_017004822.1:c.44522T>C (TTN) | XP_016860311.1:p.Ile14841Thr | |
| XM_017004823.1:c.26138T>C (TTN) | XP_016860312.1:p.Ile8713Thr | |
| XM_024453094.1:c.47633T>C (TTN) | XP_024308862.1:p.Ile15878Thr | |
| XM_024453095.1:c.47630T>C (TTN) | XP_024308863.1:p.Ile15877Thr | |
| XM_024453096.1:c.47063T>C (TTN) | XP_024308864.1:p.Ile15688Thr | |
| XM_024453097.1:c.44405T>C (TTN) | XP_024308865.1:p.Ile14802Thr | |
| XM_024453098.1:c.44324T>C (TTN) | XP_024308866.1:p.Ile14775Thr | |
| XM_024453099.1:c.26087T>C (TTN) | XP_024308867.1:p.Ile8696Thr | |
| XM_024453100.1:c.15941T>C (TTN) | XP_024308868.1:p.Ile5314Thr |