Revel Score:
ENST00000342992
0.764
ENST00000460472
0.764
ENST00000342175
0.764
ENST00000359218
0.764
ENST00000356127
0.764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614658G>T , CM000664.2:g.178614658G>T | GRCh38 |
| NC_000002.11:g.179479385G>T , CM000664.1:g.179479385G>T | GRCh37 |
| NC_000002.10:g.179187630G>T | NCBI36 |
| NG_011618.3:g.221145C>A , LRG_391:g.221145C>A | |
| NG_051363.1:g.96832G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41152C>A (TTN) | ENSP00000343764.6:p.Pro13718Thr | |
| ENST00000342175.11:c.22237C>A (TTN) | ENSP00000340554.6:p.Pro7413Thr | |
| ENST00000359218.10:c.22036C>A (TTN) | ENSP00000352154.5:p.Pro7346Thr | |
| ENST00000342175.10:c.22237C>A (TTN) | ENSP00000340554.6:p.Pro7413Thr | |
| ENST00000342992.10:c.41152C>A (TTN) | ENSP00000343764.6:p.Pro13718Thr | |
| ENST00000359218.9:c.22036C>A (TTN) | ENSP00000352154.5:p.Pro7346Thr | |
| ENST00000460472.6:c.21661C>A (TTN) | ENSP00000434586.1:p.Pro7221Thr | |
| ENST00000589042.5:c.48856C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro16286Thr | |
| ENST00000591111.5:c.43933C>A (TTN) | ENSP00000465570.1:p.Pro14645Thr | |
| ENST00000615779.4:c.43933C>A (TTN) | ENSP00000483597.1:p.Pro14645Thr | |
| NM_001256850.1:c.43933C>A (TTN) | NP_001243779.1:p.Pro14645Thr | |
| NM_001267550.2:c.48856C>A (TTN) MANE Select | NP_001254479.2:p.Pro16286Thr | |
| NM_003319.4:c.21661C>A (TTN) | NP_003310.4:p.Pro7221Thr | |
| NM_133378.4:c.41152C>A (TTN) | NP_596869.4:p.Pro13718Thr | |
| NM_133432.3:c.22036C>A (TTN) | NP_597676.3:p.Pro7346Thr | |
| NM_133437.4:c.22237C>A (TTN) | NP_597681.4:p.Pro7413Thr | |
| NR_038271.1:n.1406G>T (TTN-AS1) | ||
| XM_011511729.1:c.47953C>A (TTN) | XP_011510031.1:p.Pro15985Thr | |
| XM_011511730.1:c.21847C>A (TTN) | XP_011510032.1:p.Pro7283Thr | |
| XM_011511731.1:c.21706C>A (TTN) | XP_011510033.1:p.Pro7236Thr | |
| XM_017004819.1:c.47749C>A (TTN) | XP_016860308.1:p.Pro15917Thr | |
| XM_017004820.1:c.43147C>A (TTN) | XP_016860309.1:p.Pro14383Thr | |
| XM_017004821.1:c.43144C>A (TTN) | XP_016860310.1:p.Pro14382Thr | |
| XM_017004822.1:c.40186C>A (TTN) | XP_016860311.1:p.Pro13396Thr | |
| XM_017004823.1:c.21802C>A (TTN) | XP_016860312.1:p.Pro7268Thr | |
| XM_024453094.1:c.43297C>A (TTN) | XP_024308862.1:p.Pro14433Thr | |
| XM_024453095.1:c.43294C>A (TTN) | XP_024308863.1:p.Pro14432Thr | |
| XM_024453096.1:c.42727C>A (TTN) | XP_024308864.1:p.Pro14243Thr | |
| XM_024453097.1:c.40069C>A (TTN) | XP_024308865.1:p.Pro13357Thr | |
| XM_024453098.1:c.39988C>A (TTN) | XP_024308866.1:p.Pro13330Thr | |
| XM_024453099.1:c.21751C>A (TTN) | XP_024308867.1:p.Pro7251Thr | |
| XM_024453100.1:c.11605C>A (TTN) | XP_024308868.1:p.Pro3869Thr |