Revel Score:
ENST00000342992
0.620
ENST00000460472
0.620
ENST00000342175
0.620
ENST00000359218
0.620
ENST00000356127
0.620
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614748G>T , CM000664.2:g.178614748G>T | GRCh38 |
| NC_000002.11:g.179479475G>T , CM000664.1:g.179479475G>T | GRCh37 |
| NC_000002.10:g.179187720G>T | NCBI36 |
| NG_011618.3:g.221055C>A , LRG_391:g.221055C>A | |
| NG_051363.1:g.96922G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41062C>A (TTN) | ENSP00000343764.6:p.Pro13688Thr | |
| ENST00000342175.11:c.22147C>A (TTN) | ENSP00000340554.6:p.Pro7383Thr | |
| ENST00000359218.10:c.21946C>A (TTN) | ENSP00000352154.5:p.Pro7316Thr | |
| ENST00000342175.10:c.22147C>A (TTN) | ENSP00000340554.6:p.Pro7383Thr | |
| ENST00000342992.10:c.41062C>A (TTN) | ENSP00000343764.6:p.Pro13688Thr | |
| ENST00000359218.9:c.21946C>A (TTN) | ENSP00000352154.5:p.Pro7316Thr | |
| ENST00000460472.6:c.21571C>A (TTN) | ENSP00000434586.1:p.Pro7191Thr | |
| ENST00000589042.5:c.48766C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro16256Thr | |
| ENST00000591111.5:c.43843C>A (TTN) | ENSP00000465570.1:p.Pro14615Thr | |
| ENST00000615779.4:c.43843C>A (TTN) | ENSP00000483597.1:p.Pro14615Thr | |
| NM_001256850.1:c.43843C>A (TTN) | NP_001243779.1:p.Pro14615Thr | |
| NM_001267550.2:c.48766C>A (TTN) MANE Select | NP_001254479.2:p.Pro16256Thr | |
| NM_003319.4:c.21571C>A (TTN) | NP_003310.4:p.Pro7191Thr | |
| NM_133378.4:c.41062C>A (TTN) | NP_596869.4:p.Pro13688Thr | |
| NM_133432.3:c.21946C>A (TTN) | NP_597676.3:p.Pro7316Thr | |
| NM_133437.4:c.22147C>A (TTN) | NP_597681.4:p.Pro7383Thr | |
| NR_038271.1:n.1496G>T (TTN-AS1) | ||
| XM_011511729.1:c.47863C>A (TTN) | XP_011510031.1:p.Pro15955Thr | |
| XM_011511730.1:c.21757C>A (TTN) | XP_011510032.1:p.Pro7253Thr | |
| XM_011511731.1:c.21616C>A (TTN) | XP_011510033.1:p.Pro7206Thr | |
| XM_017004819.1:c.47659C>A (TTN) | XP_016860308.1:p.Pro15887Thr | |
| XM_017004820.1:c.43057C>A (TTN) | XP_016860309.1:p.Pro14353Thr | |
| XM_017004821.1:c.43054C>A (TTN) | XP_016860310.1:p.Pro14352Thr | |
| XM_017004822.1:c.40096C>A (TTN) | XP_016860311.1:p.Pro13366Thr | |
| XM_017004823.1:c.21712C>A (TTN) | XP_016860312.1:p.Pro7238Thr | |
| XM_024453094.1:c.43207C>A (TTN) | XP_024308862.1:p.Pro14403Thr | |
| XM_024453095.1:c.43204C>A (TTN) | XP_024308863.1:p.Pro14402Thr | |
| XM_024453096.1:c.42637C>A (TTN) | XP_024308864.1:p.Pro14213Thr | |
| XM_024453097.1:c.39979C>A (TTN) | XP_024308865.1:p.Pro13327Thr | |
| XM_024453098.1:c.39898C>A (TTN) | XP_024308866.1:p.Pro13300Thr | |
| XM_024453099.1:c.21661C>A (TTN) | XP_024308867.1:p.Pro7221Thr | |
| XM_024453100.1:c.11515C>A (TTN) | XP_024308868.1:p.Pro3839Thr |