Revel Score:
ENST00000342992
0.153
ENST00000460472
0.153
ENST00000342175
0.153
ENST00000359218
0.153
ENST00000356127
0.153
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002258 (AMR)
Genomes Max Group AF
0.00001172 (NFE)
Exomes Max Group AF
0.00002989 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569576A>G , CM000664.2:g.178569576A>G | GRCh38 |
| NC_000002.11:g.179434303A>G , CM000664.1:g.179434303A>G | GRCh37 |
| NC_000002.10:g.179142549A>G | NCBI36 |
| NG_011618.3:g.266227T>C , LRG_391:g.266227T>C | |
| NG_051363.1:g.51750A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68852T>C (TTN) | ENSP00000343764.6:p.Ile22951Thr | |
| ENST00000342175.11:c.49937T>C (TTN) | ENSP00000340554.6:p.Ile16646Thr | |
| ENST00000359218.10:c.49736T>C (TTN) | ENSP00000352154.5:p.Ile16579Thr | |
| ENST00000342175.10:c.49937T>C (TTN) | ENSP00000340554.6:p.Ile16646Thr | |
| ENST00000342992.10:c.68852T>C (TTN) | ENSP00000343764.6:p.Ile22951Thr | |
| ENST00000359218.9:c.49736T>C (TTN) | ENSP00000352154.5:p.Ile16579Thr | |
| ENST00000460472.6:c.49361T>C (TTN) | ENSP00000434586.1:p.Ile16454Thr | |
| ENST00000589042.5:c.76556T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile25519Thr | |
| ENST00000591111.5:c.71633T>C (TTN) | ENSP00000465570.1:p.Ile23878Thr | |
| ENST00000615779.4:c.71633T>C (TTN) | ENSP00000483597.1:p.Ile23878Thr | |
| NM_001256850.1:c.71633T>C (TTN) | NP_001243779.1:p.Ile23878Thr | |
| NM_001267550.2:c.76556T>C (TTN) MANE Select | NP_001254479.2:p.Ile25519Thr | |
| NM_003319.4:c.49361T>C (TTN) | NP_003310.4:p.Ile16454Thr | |
| NM_133378.4:c.68852T>C (TTN) | NP_596869.4:p.Ile22951Thr | |
| NM_133432.3:c.49736T>C (TTN) | NP_597676.3:p.Ile16579Thr | |
| NM_133437.4:c.49937T>C (TTN) | NP_597681.4:p.Ile16646Thr | |
| NR_038271.1:n.447-1724A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-12996A>G (TTN-AS1) | ||
| XM_011511729.1:c.75653T>C (TTN) | XP_011510031.1:p.Ile25218Thr | |
| XM_011511730.1:c.49547T>C (TTN) | XP_011510032.1:p.Ile16516Thr | |
| XM_011511731.1:c.49406T>C (TTN) | XP_011510033.1:p.Ile16469Thr | |
| XM_017004819.1:c.75449T>C (TTN) | XP_016860308.1:p.Ile25150Thr | |
| XM_017004820.1:c.70847T>C (TTN) | XP_016860309.1:p.Ile23616Thr | |
| XM_017004821.1:c.70844T>C (TTN) | XP_016860310.1:p.Ile23615Thr | |
| XM_017004822.1:c.67886T>C (TTN) | XP_016860311.1:p.Ile22629Thr | |
| XM_017004823.1:c.49502T>C (TTN) | XP_016860312.1:p.Ile16501Thr | |
| XM_024453094.1:c.70997T>C (TTN) | XP_024308862.1:p.Ile23666Thr | |
| XM_024453095.1:c.70994T>C (TTN) | XP_024308863.1:p.Ile23665Thr | |
| XM_024453096.1:c.70427T>C (TTN) | XP_024308864.1:p.Ile23476Thr | |
| XM_024453097.1:c.67769T>C (TTN) | XP_024308865.1:p.Ile22590Thr | |
| XM_024453098.1:c.67688T>C (TTN) | XP_024308866.1:p.Ile22563Thr | |
| XM_024453099.1:c.49451T>C (TTN) | XP_024308867.1:p.Ile16484Thr | |
| XM_024453100.1:c.39305T>C (TTN) | XP_024308868.1:p.Ile13102Thr |