Revel Score:
ENST00000342992
0.610
ENST00000460472
0.610
ENST00000342175
0.610
ENST00000359218
0.610
ENST00000356127
0.610
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614748G>A , CM000664.2:g.178614748G>A | GRCh38 |
| NC_000002.11:g.179479475G>A , CM000664.1:g.179479475G>A | GRCh37 |
| NC_000002.10:g.179187720G>A | NCBI36 |
| NG_011618.3:g.221055C>T , LRG_391:g.221055C>T | |
| NG_051363.1:g.96922G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41062C>T (TTN) | ENSP00000343764.6:p.Pro13688Ser | |
| ENST00000342175.11:c.22147C>T (TTN) | ENSP00000340554.6:p.Pro7383Ser | |
| ENST00000359218.10:c.21946C>T (TTN) | ENSP00000352154.5:p.Pro7316Ser | |
| ENST00000342175.10:c.22147C>T (TTN) | ENSP00000340554.6:p.Pro7383Ser | |
| ENST00000342992.10:c.41062C>T (TTN) | ENSP00000343764.6:p.Pro13688Ser | |
| ENST00000359218.9:c.21946C>T (TTN) | ENSP00000352154.5:p.Pro7316Ser | |
| ENST00000460472.6:c.21571C>T (TTN) | ENSP00000434586.1:p.Pro7191Ser | |
| ENST00000589042.5:c.48766C>T (TTN) MANE Select | ENSP00000467141.1:p.Pro16256Ser | |
| ENST00000591111.5:c.43843C>T (TTN) | ENSP00000465570.1:p.Pro14615Ser | |
| ENST00000615779.4:c.43843C>T (TTN) | ENSP00000483597.1:p.Pro14615Ser | |
| NM_001256850.1:c.43843C>T (TTN) | NP_001243779.1:p.Pro14615Ser | |
| NM_001267550.2:c.48766C>T (TTN) MANE Select | NP_001254479.2:p.Pro16256Ser | |
| NM_003319.4:c.21571C>T (TTN) | NP_003310.4:p.Pro7191Ser | |
| NM_133378.4:c.41062C>T (TTN) | NP_596869.4:p.Pro13688Ser | |
| NM_133432.3:c.21946C>T (TTN) | NP_597676.3:p.Pro7316Ser | |
| NM_133437.4:c.22147C>T (TTN) | NP_597681.4:p.Pro7383Ser | |
| NR_038271.1:n.1496G>A (TTN-AS1) | ||
| XM_011511729.1:c.47863C>T (TTN) | XP_011510031.1:p.Pro15955Ser | |
| XM_011511730.1:c.21757C>T (TTN) | XP_011510032.1:p.Pro7253Ser | |
| XM_011511731.1:c.21616C>T (TTN) | XP_011510033.1:p.Pro7206Ser | |
| XM_017004819.1:c.47659C>T (TTN) | XP_016860308.1:p.Pro15887Ser | |
| XM_017004820.1:c.43057C>T (TTN) | XP_016860309.1:p.Pro14353Ser | |
| XM_017004821.1:c.43054C>T (TTN) | XP_016860310.1:p.Pro14352Ser | |
| XM_017004822.1:c.40096C>T (TTN) | XP_016860311.1:p.Pro13366Ser | |
| XM_017004823.1:c.21712C>T (TTN) | XP_016860312.1:p.Pro7238Ser | |
| XM_024453094.1:c.43207C>T (TTN) | XP_024308862.1:p.Pro14403Ser | |
| XM_024453095.1:c.43204C>T (TTN) | XP_024308863.1:p.Pro14402Ser | |
| XM_024453096.1:c.42637C>T (TTN) | XP_024308864.1:p.Pro14213Ser | |
| XM_024453097.1:c.39979C>T (TTN) | XP_024308865.1:p.Pro13327Ser | |
| XM_024453098.1:c.39898C>T (TTN) | XP_024308866.1:p.Pro13300Ser | |
| XM_024453099.1:c.21661C>T (TTN) | XP_024308867.1:p.Pro7221Ser | |
| XM_024453100.1:c.11515C>T (TTN) | XP_024308868.1:p.Pro3839Ser |