Revel Score:
ENST00000342992
0.192
ENST00000460472
0.192
ENST00000342175
0.192
ENST00000359218
0.192
ENST00000356127
0.192
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607487G>A , CM000664.2:g.178607487G>A | GRCh38 |
| NC_000002.11:g.179472214G>A , CM000664.1:g.179472214G>A | GRCh37 |
| NC_000002.10:g.179180459G>A | NCBI36 |
| NG_011618.3:g.228316C>T , LRG_391:g.228316C>T | |
| NG_051363.1:g.89661G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45497C>T (TTN) | ENSP00000343764.6:p.Ala15166Val | |
| ENST00000342175.11:c.26582C>T (TTN) | ENSP00000340554.6:p.Ala8861Val | |
| ENST00000359218.10:c.26381C>T (TTN) | ENSP00000352154.5:p.Ala8794Val | |
| ENST00000342175.10:c.26582C>T (TTN) | ENSP00000340554.6:p.Ala8861Val | |
| ENST00000342992.10:c.45497C>T (TTN) | ENSP00000343764.6:p.Ala15166Val | |
| ENST00000359218.9:c.26381C>T (TTN) | ENSP00000352154.5:p.Ala8794Val | |
| ENST00000460472.6:c.26006C>T (TTN) | ENSP00000434586.1:p.Ala8669Val | |
| ENST00000589042.5:c.53201C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala17734Val | |
| ENST00000591111.5:c.48278C>T (TTN) | ENSP00000465570.1:p.Ala16093Val | |
| ENST00000615779.4:c.48278C>T (TTN) | ENSP00000483597.1:p.Ala16093Val | |
| NM_001256850.1:c.48278C>T (TTN) | NP_001243779.1:p.Ala16093Val | |
| NM_001267550.2:c.53201C>T (TTN) MANE Select | NP_001254479.2:p.Ala17734Val | |
| NM_003319.4:c.26006C>T (TTN) | NP_003310.4:p.Ala8669Val | |
| NM_133378.4:c.45497C>T (TTN) | NP_596869.4:p.Ala15166Val | |
| NM_133432.3:c.26381C>T (TTN) | NP_597676.3:p.Ala8794Val | |
| NM_133437.4:c.26582C>T (TTN) | NP_597681.4:p.Ala8861Val | |
| NR_038271.1:n.683-680G>A (TTN-AS1) | ||
| XM_011511729.1:c.52298C>T (TTN) | XP_011510031.1:p.Ala17433Val | |
| XM_011511730.1:c.26192C>T (TTN) | XP_011510032.1:p.Ala8731Val | |
| XM_011511731.1:c.26051C>T (TTN) | XP_011510033.1:p.Ala8684Val | |
| XM_017004819.1:c.52094C>T (TTN) | XP_016860308.1:p.Ala17365Val | |
| XM_017004820.1:c.47492C>T (TTN) | XP_016860309.1:p.Ala15831Val | |
| XM_017004821.1:c.47489C>T (TTN) | XP_016860310.1:p.Ala15830Val | |
| XM_017004822.1:c.44531C>T (TTN) | XP_016860311.1:p.Ala14844Val | |
| XM_017004823.1:c.26147C>T (TTN) | XP_016860312.1:p.Ala8716Val | |
| XM_024453094.1:c.47642C>T (TTN) | XP_024308862.1:p.Ala15881Val | |
| XM_024453095.1:c.47639C>T (TTN) | XP_024308863.1:p.Ala15880Val | |
| XM_024453096.1:c.47072C>T (TTN) | XP_024308864.1:p.Ala15691Val | |
| XM_024453097.1:c.44414C>T (TTN) | XP_024308865.1:p.Ala14805Val | |
| XM_024453098.1:c.44333C>T (TTN) | XP_024308866.1:p.Ala14778Val | |
| XM_024453099.1:c.26096C>T (TTN) | XP_024308867.1:p.Ala8699Val | |
| XM_024453100.1:c.15950C>T (TTN) | XP_024308868.1:p.Ala5317Val |