Revel Score:
ENST00000342992
0.230
ENST00000460472
0.230
ENST00000342175
0.230
ENST00000359218
0.230
ENST00000356127
0.230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614542A>C , CM000664.2:g.178614542A>C | GRCh38 |
| NC_000002.11:g.179479269A>C , CM000664.1:g.179479269A>C | GRCh37 |
| NC_000002.10:g.179187514A>C | NCBI36 |
| NG_011618.3:g.221261T>G , LRG_391:g.221261T>G | |
| NG_051363.1:g.96716A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41268T>G (TTN) | ENSP00000343764.6:p.Ser13756Arg | |
| ENST00000342175.11:c.22353T>G (TTN) | ENSP00000340554.6:p.Ser7451Arg | |
| ENST00000359218.10:c.22152T>G (TTN) | ENSP00000352154.5:p.Ser7384Arg | |
| ENST00000342175.10:c.22353T>G (TTN) | ENSP00000340554.6:p.Ser7451Arg | |
| ENST00000342992.10:c.41268T>G (TTN) | ENSP00000343764.6:p.Ser13756Arg | |
| ENST00000359218.9:c.22152T>G (TTN) | ENSP00000352154.5:p.Ser7384Arg | |
| ENST00000460472.6:c.21777T>G (TTN) | ENSP00000434586.1:p.Ser7259Arg | |
| ENST00000589042.5:c.48972T>G (TTN) MANE Select | ENSP00000467141.1:p.Ser16324Arg | |
| ENST00000591111.5:c.44049T>G (TTN) | ENSP00000465570.1:p.Ser14683Arg | |
| ENST00000615779.4:c.44049T>G (TTN) | ENSP00000483597.1:p.Ser14683Arg | |
| NM_001256850.1:c.44049T>G (TTN) | NP_001243779.1:p.Ser14683Arg | |
| NM_001267550.2:c.48972T>G (TTN) MANE Select | NP_001254479.2:p.Ser16324Arg | |
| NM_003319.4:c.21777T>G (TTN) | NP_003310.4:p.Ser7259Arg | |
| NM_133378.4:c.41268T>G (TTN) | NP_596869.4:p.Ser13756Arg | |
| NM_133432.3:c.22152T>G (TTN) | NP_597676.3:p.Ser7384Arg | |
| NM_133437.4:c.22353T>G (TTN) | NP_597681.4:p.Ser7451Arg | |
| NR_038271.1:n.1290A>C (TTN-AS1) | ||
| XM_011511729.1:c.48069T>G (TTN) | XP_011510031.1:p.Ser16023Arg | |
| XM_011511730.1:c.21963T>G (TTN) | XP_011510032.1:p.Ser7321Arg | |
| XM_011511731.1:c.21822T>G (TTN) | XP_011510033.1:p.Ser7274Arg | |
| XM_017004819.1:c.47865T>G (TTN) | XP_016860308.1:p.Ser15955Arg | |
| XM_017004820.1:c.43263T>G (TTN) | XP_016860309.1:p.Ser14421Arg | |
| XM_017004821.1:c.43260T>G (TTN) | XP_016860310.1:p.Ser14420Arg | |
| XM_017004822.1:c.40302T>G (TTN) | XP_016860311.1:p.Ser13434Arg | |
| XM_017004823.1:c.21918T>G (TTN) | XP_016860312.1:p.Ser7306Arg | |
| XM_024453094.1:c.43413T>G (TTN) | XP_024308862.1:p.Ser14471Arg | |
| XM_024453095.1:c.43410T>G (TTN) | XP_024308863.1:p.Ser14470Arg | |
| XM_024453096.1:c.42843T>G (TTN) | XP_024308864.1:p.Ser14281Arg | |
| XM_024453097.1:c.40185T>G (TTN) | XP_024308865.1:p.Ser13395Arg | |
| XM_024453098.1:c.40104T>G (TTN) | XP_024308866.1:p.Ser13368Arg | |
| XM_024453099.1:c.21867T>G (TTN) | XP_024308867.1:p.Ser7289Arg | |
| XM_024453100.1:c.11721T>G (TTN) | XP_024308868.1:p.Ser3907Arg |