ClinVar RCV:
ClinVar Variation:
Revel Score:
ENST00000342992
0.451
ENST00000460472
0.451
ENST00000342175
0.451
ENST00000359218
0.451
ENST00000356127
0.451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614642G>A , CM000664.2:g.178614642G>A | GRCh38 |
| NC_000002.11:g.179479369G>A , CM000664.1:g.179479369G>A | GRCh37 |
| NC_000002.10:g.179187614G>A | NCBI36 |
| NG_011618.3:g.221161C>T , LRG_391:g.221161C>T | |
| NG_051363.1:g.96816G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41168C>T (TTN) | ENSP00000343764.6:p.Thr13723Ile | |
| ENST00000342175.11:c.22253C>T (TTN) | ENSP00000340554.6:p.Thr7418Ile | |
| ENST00000359218.10:c.22052C>T (TTN) | ENSP00000352154.5:p.Thr7351Ile | |
| ENST00000342175.10:c.22253C>T (TTN) | ENSP00000340554.6:p.Thr7418Ile | |
| ENST00000342992.10:c.41168C>T (TTN) | ENSP00000343764.6:p.Thr13723Ile | |
| ENST00000359218.9:c.22052C>T (TTN) | ENSP00000352154.5:p.Thr7351Ile | |
| ENST00000460472.6:c.21677C>T (TTN) | ENSP00000434586.1:p.Thr7226Ile | |
| ENST00000589042.5:c.48872C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr16291Ile | |
| ENST00000591111.5:c.43949C>T (TTN) | ENSP00000465570.1:p.Thr14650Ile | |
| ENST00000615779.4:c.43949C>T (TTN) | ENSP00000483597.1:p.Thr14650Ile | |
| NM_001256850.1:c.43949C>T (TTN) | NP_001243779.1:p.Thr14650Ile | |
| NM_001267550.2:c.48872C>T (TTN) MANE Select | NP_001254479.2:p.Thr16291Ile | |
| NM_003319.4:c.21677C>T (TTN) | NP_003310.4:p.Thr7226Ile | |
| NM_133378.4:c.41168C>T (TTN) | NP_596869.4:p.Thr13723Ile | |
| NM_133432.3:c.22052C>T (TTN) | NP_597676.3:p.Thr7351Ile | |
| NM_133437.4:c.22253C>T (TTN) | NP_597681.4:p.Thr7418Ile | |
| NR_038271.1:n.1390G>A (TTN-AS1) | ||
| XM_011511729.1:c.47969C>T (TTN) | XP_011510031.1:p.Thr15990Ile | |
| XM_011511730.1:c.21863C>T (TTN) | XP_011510032.1:p.Thr7288Ile | |
| XM_011511731.1:c.21722C>T (TTN) | XP_011510033.1:p.Thr7241Ile | |
| XM_017004819.1:c.47765C>T (TTN) | XP_016860308.1:p.Thr15922Ile | |
| XM_017004820.1:c.43163C>T (TTN) | XP_016860309.1:p.Thr14388Ile | |
| XM_017004821.1:c.43160C>T (TTN) | XP_016860310.1:p.Thr14387Ile | |
| XM_017004822.1:c.40202C>T (TTN) | XP_016860311.1:p.Thr13401Ile | |
| XM_017004823.1:c.21818C>T (TTN) | XP_016860312.1:p.Thr7273Ile | |
| XM_024453094.1:c.43313C>T (TTN) | XP_024308862.1:p.Thr14438Ile | |
| XM_024453095.1:c.43310C>T (TTN) | XP_024308863.1:p.Thr14437Ile | |
| XM_024453096.1:c.42743C>T (TTN) | XP_024308864.1:p.Thr14248Ile | |
| XM_024453097.1:c.40085C>T (TTN) | XP_024308865.1:p.Thr13362Ile | |
| XM_024453098.1:c.40004C>T (TTN) | XP_024308866.1:p.Thr13335Ile | |
| XM_024453099.1:c.21767C>T (TTN) | XP_024308867.1:p.Thr7256Ile | |
| XM_024453100.1:c.11621C>T (TTN) | XP_024308868.1:p.Thr3874Ile |