Revel Score:
ENST00000342992
0.157
ENST00000460472
0.157
ENST00000342175
0.157
ENST00000359218
0.157
ENST00000356127
0.157
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533933C>G , CM000664.2:g.178533933C>G | GRCh38 |
| NC_000002.11:g.179398660C>G , CM000664.1:g.179398660C>G | GRCh37 |
| NC_000002.10:g.179106906C>G | NCBI36 |
| NG_011618.3:g.301870G>C , LRG_391:g.301870G>C | |
| NG_051363.1:g.16107C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94978G>C (TTN) | ENSP00000343764.6:p.Gly31660Arg | |
| ENST00000342175.11:c.76063G>C (TTN) | ENSP00000340554.6:p.Gly25355Arg | |
| ENST00000359218.10:c.75862G>C (TTN) | ENSP00000352154.5:p.Gly25288Arg | |
| ENST00000342175.10:c.76063G>C (TTN) | ENSP00000340554.6:p.Gly25355Arg | |
| ENST00000342992.10:c.94978G>C (TTN) | ENSP00000343764.6:p.Gly31660Arg | |
| ENST00000359218.9:c.75862G>C (TTN) | ENSP00000352154.5:p.Gly25288Arg | |
| ENST00000460472.6:c.75487G>C (TTN) | ENSP00000434586.1:p.Gly25163Arg | |
| ENST00000589042.5:c.102682G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly34228Arg | |
| ENST00000591111.5:c.97759G>C (TTN) | ENSP00000465570.1:p.Gly32587Arg | |
| ENST00000615779.4:c.97759G>C (TTN) | ENSP00000483597.1:p.Gly32587Arg | |
| NM_001256850.1:c.97759G>C (TTN) | NP_001243779.1:p.Gly32587Arg | |
| NM_001267550.2:c.102682G>C (TTN) MANE Select | NP_001254479.2:p.Gly34228Arg | |
| NM_003319.4:c.75487G>C (TTN) | NP_003310.4:p.Gly25163Arg | |
| NM_133378.4:c.94978G>C (TTN) | NP_596869.4:p.Gly31660Arg | |
| NM_133432.3:c.75862G>C (TTN) | NP_597676.3:p.Gly25288Arg | |
| NM_133437.4:c.76063G>C (TTN) | NP_597681.4:p.Gly25355Arg | |
| NR_038271.1:n.446+10297C>G (TTN-AS1) | ||
| NR_038272.1:n.220-1799C>G (TTN-AS1) | ||
| XM_011511729.1:c.101779G>C (TTN) | XP_011510031.1:p.Gly33927Arg | |
| XM_011511730.1:c.75673G>C (TTN) | XP_011510032.1:p.Gly25225Arg | |
| XM_011511731.1:c.75532G>C (TTN) | XP_011510033.1:p.Gly25178Arg | |
| XM_017004819.1:c.101575G>C (TTN) | XP_016860308.1:p.Gly33859Arg | |
| XM_017004820.1:c.96973G>C (TTN) | XP_016860309.1:p.Gly32325Arg | |
| XM_017004821.1:c.96970G>C (TTN) | XP_016860310.1:p.Gly32324Arg | |
| XM_017004822.1:c.94012G>C (TTN) | XP_016860311.1:p.Gly31338Arg | |
| XM_017004823.1:c.75628G>C (TTN) | XP_016860312.1:p.Gly25210Arg | |
| XM_024453094.1:c.97123G>C (TTN) | XP_024308862.1:p.Gly32375Arg | |
| XM_024453095.1:c.97120G>C (TTN) | XP_024308863.1:p.Gly32374Arg | |
| XM_024453096.1:c.96553G>C (TTN) | XP_024308864.1:p.Gly32185Arg | |
| XM_024453097.1:c.93895G>C (TTN) | XP_024308865.1:p.Gly31299Arg | |
| XM_024453098.1:c.93814G>C (TTN) | XP_024308866.1:p.Gly31272Arg | |
| XM_024453099.1:c.75577G>C (TTN) | XP_024308867.1:p.Gly25193Arg | |
| XM_024453100.1:c.65431G>C (TTN) | XP_024308868.1:p.Gly21811Arg |