Revel Score:
ENST00000342992
0.140
ENST00000460472
0.140
ENST00000342175
0.140
ENST00000359218
0.140
ENST00000356127
0.140
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000554 (AMR)
Exomes Max Group AF
0.00000743 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614538T>C , CM000664.2:g.178614538T>C | GRCh38 |
| NC_000002.11:g.179479265T>C , CM000664.1:g.179479265T>C | GRCh37 |
| NC_000002.10:g.179187510T>C | NCBI36 |
| NG_011618.3:g.221265A>G , LRG_391:g.221265A>G | |
| NG_051363.1:g.96712T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41272A>G (TTN) | ENSP00000343764.6:p.Thr13758Ala | |
| ENST00000342175.11:c.22357A>G (TTN) | ENSP00000340554.6:p.Thr7453Ala | |
| ENST00000359218.10:c.22156A>G (TTN) | ENSP00000352154.5:p.Thr7386Ala | |
| ENST00000342175.10:c.22357A>G (TTN) | ENSP00000340554.6:p.Thr7453Ala | |
| ENST00000342992.10:c.41272A>G (TTN) | ENSP00000343764.6:p.Thr13758Ala | |
| ENST00000359218.9:c.22156A>G (TTN) | ENSP00000352154.5:p.Thr7386Ala | |
| ENST00000460472.6:c.21781A>G (TTN) | ENSP00000434586.1:p.Thr7261Ala | |
| ENST00000589042.5:c.48976A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr16326Ala | |
| ENST00000591111.5:c.44053A>G (TTN) | ENSP00000465570.1:p.Thr14685Ala | |
| ENST00000615779.4:c.44053A>G (TTN) | ENSP00000483597.1:p.Thr14685Ala | |
| NM_001256850.1:c.44053A>G (TTN) | NP_001243779.1:p.Thr14685Ala | |
| NM_001267550.2:c.48976A>G (TTN) MANE Select | NP_001254479.2:p.Thr16326Ala | |
| NM_003319.4:c.21781A>G (TTN) | NP_003310.4:p.Thr7261Ala | |
| NM_133378.4:c.41272A>G (TTN) | NP_596869.4:p.Thr13758Ala | |
| NM_133432.3:c.22156A>G (TTN) | NP_597676.3:p.Thr7386Ala | |
| NM_133437.4:c.22357A>G (TTN) | NP_597681.4:p.Thr7453Ala | |
| NR_038271.1:n.1286T>C (TTN-AS1) | ||
| XM_011511729.1:c.48073A>G (TTN) | XP_011510031.1:p.Thr16025Ala | |
| XM_011511730.1:c.21967A>G (TTN) | XP_011510032.1:p.Thr7323Ala | |
| XM_011511731.1:c.21826A>G (TTN) | XP_011510033.1:p.Thr7276Ala | |
| XM_017004819.1:c.47869A>G (TTN) | XP_016860308.1:p.Thr15957Ala | |
| XM_017004820.1:c.43267A>G (TTN) | XP_016860309.1:p.Thr14423Ala | |
| XM_017004821.1:c.43264A>G (TTN) | XP_016860310.1:p.Thr14422Ala | |
| XM_017004822.1:c.40306A>G (TTN) | XP_016860311.1:p.Thr13436Ala | |
| XM_017004823.1:c.21922A>G (TTN) | XP_016860312.1:p.Thr7308Ala | |
| XM_024453094.1:c.43417A>G (TTN) | XP_024308862.1:p.Thr14473Ala | |
| XM_024453095.1:c.43414A>G (TTN) | XP_024308863.1:p.Thr14472Ala | |
| XM_024453096.1:c.42847A>G (TTN) | XP_024308864.1:p.Thr14283Ala | |
| XM_024453097.1:c.40189A>G (TTN) | XP_024308865.1:p.Thr13397Ala | |
| XM_024453098.1:c.40108A>G (TTN) | XP_024308866.1:p.Thr13370Ala | |
| XM_024453099.1:c.21871A>G (TTN) | XP_024308867.1:p.Thr7291Ala | |
| XM_024453100.1:c.11725A>G (TTN) | XP_024308868.1:p.Thr3909Ala |