Revel Score:
ENST00000342992
0.335
ENST00000460472
0.335
ENST00000342175
0.335
ENST00000359218
0.335
ENST00000356127
0.335
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578078C>G , CM000664.2:g.178578078C>G | GRCh38 |
| NC_000002.11:g.179442805C>G , CM000664.1:g.179442805C>G | GRCh37 |
| NC_000002.10:g.179151051C>G | NCBI36 |
| NG_011618.3:g.257725G>C , LRG_391:g.257725G>C | |
| NG_051363.1:g.60252C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60733G>C (TTN) | ENSP00000343764.6:p.Glu20245Gln | |
| ENST00000342175.11:c.41818G>C (TTN) | ENSP00000340554.6:p.Glu13940Gln | |
| ENST00000359218.10:c.41617G>C (TTN) | ENSP00000352154.5:p.Glu13873Gln | |
| ENST00000342175.10:c.41818G>C (TTN) | ENSP00000340554.6:p.Glu13940Gln | |
| ENST00000342992.10:c.60733G>C (TTN) | ENSP00000343764.6:p.Glu20245Gln | |
| ENST00000359218.9:c.41617G>C (TTN) | ENSP00000352154.5:p.Glu13873Gln | |
| ENST00000460472.6:c.41242G>C (TTN) | ENSP00000434586.1:p.Glu13748Gln | |
| ENST00000589042.5:c.68437G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu22813Gln | |
| ENST00000591111.5:c.63514G>C (TTN) | ENSP00000465570.1:p.Glu21172Gln | |
| ENST00000615779.4:c.63514G>C (TTN) | ENSP00000483597.1:p.Glu21172Gln | |
| NM_001256850.1:c.63514G>C (TTN) | NP_001243779.1:p.Glu21172Gln | |
| NM_001267550.2:c.68437G>C (TTN) MANE Select | NP_001254479.2:p.Glu22813Gln | |
| NM_003319.4:c.41242G>C (TTN) | NP_003310.4:p.Glu13748Gln | |
| NM_133378.4:c.60733G>C (TTN) | NP_596869.4:p.Glu20245Gln | |
| NM_133432.3:c.41617G>C (TTN) | NP_597676.3:p.Glu13873Gln | |
| NM_133437.4:c.41818G>C (TTN) | NP_597681.4:p.Glu13940Gln | |
| NR_038271.1:n.596+6629C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-4494C>G (TTN-AS1) | ||
| XM_011511729.1:c.67534G>C (TTN) | XP_011510031.1:p.Glu22512Gln | |
| XM_011511730.1:c.41428G>C (TTN) | XP_011510032.1:p.Glu13810Gln | |
| XM_011511731.1:c.41287G>C (TTN) | XP_011510033.1:p.Glu13763Gln | |
| XM_017004819.1:c.67330G>C (TTN) | XP_016860308.1:p.Glu22444Gln | |
| XM_017004820.1:c.62728G>C (TTN) | XP_016860309.1:p.Glu20910Gln | |
| XM_017004821.1:c.62725G>C (TTN) | XP_016860310.1:p.Glu20909Gln | |
| XM_017004822.1:c.59767G>C (TTN) | XP_016860311.1:p.Glu19923Gln | |
| XM_017004823.1:c.41383G>C (TTN) | XP_016860312.1:p.Glu13795Gln | |
| XM_024453094.1:c.62878G>C (TTN) | XP_024308862.1:p.Glu20960Gln | |
| XM_024453095.1:c.62875G>C (TTN) | XP_024308863.1:p.Glu20959Gln | |
| XM_024453096.1:c.62308G>C (TTN) | XP_024308864.1:p.Glu20770Gln | |
| XM_024453097.1:c.59650G>C (TTN) | XP_024308865.1:p.Glu19884Gln | |
| XM_024453098.1:c.59569G>C (TTN) | XP_024308866.1:p.Glu19857Gln | |
| XM_024453099.1:c.41332G>C (TTN) | XP_024308867.1:p.Glu13778Gln | |
| XM_024453100.1:c.31186G>C (TTN) | XP_024308868.1:p.Glu10396Gln |