Revel Score:
ENST00000342992
0.400
ENST00000460472
0.400
ENST00000342175
0.400
ENST00000359218
0.400
ENST00000356127
0.400
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013504 (NFE)
Genomes Max Group AF
0.00014683 (NFE)
Exomes Max Group AF
0.00012981 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565466T>C , CM000664.2:g.178565466T>C | GRCh38 |
| NC_000002.11:g.179430193T>C , CM000664.1:g.179430193T>C | GRCh37 |
| NC_000002.10:g.179138439T>C | NCBI36 |
| NG_011618.3:g.270337A>G , LRG_391:g.270337A>G | |
| NG_051363.1:g.47640T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72962A>G (TTN) | ENSP00000343764.6:p.Tyr24321Cys | |
| ENST00000342175.11:c.54047A>G (TTN) | ENSP00000340554.6:p.Tyr18016Cys | |
| ENST00000359218.10:c.53846A>G (TTN) | ENSP00000352154.5:p.Tyr17949Cys | |
| ENST00000342175.10:c.54047A>G (TTN) | ENSP00000340554.6:p.Tyr18016Cys | |
| ENST00000342992.10:c.72962A>G (TTN) | ENSP00000343764.6:p.Tyr24321Cys | |
| ENST00000359218.9:c.53846A>G (TTN) | ENSP00000352154.5:p.Tyr17949Cys | |
| ENST00000460472.6:c.53471A>G (TTN) | ENSP00000434586.1:p.Tyr17824Cys | |
| ENST00000589042.5:c.80666A>G (TTN) MANE Select | ENSP00000467141.1:p.Tyr26889Cys | |
| ENST00000591111.5:c.75743A>G (TTN) | ENSP00000465570.1:p.Tyr25248Cys | |
| ENST00000615779.4:c.75743A>G (TTN) | ENSP00000483597.1:p.Tyr25248Cys | |
| NM_001256850.1:c.75743A>G (TTN) | NP_001243779.1:p.Tyr25248Cys | |
| NM_001267550.2:c.80666A>G (TTN) MANE Select | NP_001254479.2:p.Tyr26889Cys | |
| NM_003319.4:c.53471A>G (TTN) | NP_003310.4:p.Tyr17824Cys | |
| NM_133378.4:c.72962A>G (TTN) | NP_596869.4:p.Tyr24321Cys | |
| NM_133432.3:c.53846A>G (TTN) | NP_597676.3:p.Tyr17949Cys | |
| NM_133437.4:c.54047A>G (TTN) | NP_597681.4:p.Tyr18016Cys | |
| NR_038271.1:n.447-5834T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-17106T>C (TTN-AS1) | ||
| XM_011511729.1:c.79763A>G (TTN) | XP_011510031.1:p.Tyr26588Cys | |
| XM_011511730.1:c.53657A>G (TTN) | XP_011510032.1:p.Tyr17886Cys | |
| XM_011511731.1:c.53516A>G (TTN) | XP_011510033.1:p.Tyr17839Cys | |
| XM_017004819.1:c.79559A>G (TTN) | XP_016860308.1:p.Tyr26520Cys | |
| XM_017004820.1:c.74957A>G (TTN) | XP_016860309.1:p.Tyr24986Cys | |
| XM_017004821.1:c.74954A>G (TTN) | XP_016860310.1:p.Tyr24985Cys | |
| XM_017004822.1:c.71996A>G (TTN) | XP_016860311.1:p.Tyr23999Cys | |
| XM_017004823.1:c.53612A>G (TTN) | XP_016860312.1:p.Tyr17871Cys | |
| XM_024453094.1:c.75107A>G (TTN) | XP_024308862.1:p.Tyr25036Cys | |
| XM_024453095.1:c.75104A>G (TTN) | XP_024308863.1:p.Tyr25035Cys | |
| XM_024453096.1:c.74537A>G (TTN) | XP_024308864.1:p.Tyr24846Cys | |
| XM_024453097.1:c.71879A>G (TTN) | XP_024308865.1:p.Tyr23960Cys | |
| XM_024453098.1:c.71798A>G (TTN) | XP_024308866.1:p.Tyr23933Cys | |
| XM_024453099.1:c.53561A>G (TTN) | XP_024308867.1:p.Tyr17854Cys | |
| XM_024453100.1:c.43415A>G (TTN) | XP_024308868.1:p.Tyr14472Cys |