Revel Score:
ENST00000342992
0.261
ENST00000460472
0.261
ENST00000342175
0.261
ENST00000359218
0.261
ENST00000356127
0.261
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607493T>C , CM000664.2:g.178607493T>C | GRCh38 |
| NC_000002.11:g.179472220T>C , CM000664.1:g.179472220T>C | GRCh37 |
| NC_000002.10:g.179180465T>C | NCBI36 |
| NG_011618.3:g.228310A>G , LRG_391:g.228310A>G | |
| NG_051363.1:g.89667T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45491A>G (TTN) | ENSP00000343764.6:p.Lys15164Arg | |
| ENST00000342175.11:c.26576A>G (TTN) | ENSP00000340554.6:p.Lys8859Arg | |
| ENST00000359218.10:c.26375A>G (TTN) | ENSP00000352154.5:p.Lys8792Arg | |
| ENST00000342175.10:c.26576A>G (TTN) | ENSP00000340554.6:p.Lys8859Arg | |
| ENST00000342992.10:c.45491A>G (TTN) | ENSP00000343764.6:p.Lys15164Arg | |
| ENST00000359218.9:c.26375A>G (TTN) | ENSP00000352154.5:p.Lys8792Arg | |
| ENST00000460472.6:c.26000A>G (TTN) | ENSP00000434586.1:p.Lys8667Arg | |
| ENST00000589042.5:c.53195A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys17732Arg | |
| ENST00000591111.5:c.48272A>G (TTN) | ENSP00000465570.1:p.Lys16091Arg | |
| ENST00000615779.4:c.48272A>G (TTN) | ENSP00000483597.1:p.Lys16091Arg | |
| NM_001256850.1:c.48272A>G (TTN) | NP_001243779.1:p.Lys16091Arg | |
| NM_001267550.2:c.53195A>G (TTN) MANE Select | NP_001254479.2:p.Lys17732Arg | |
| NM_003319.4:c.26000A>G (TTN) | NP_003310.4:p.Lys8667Arg | |
| NM_133378.4:c.45491A>G (TTN) | NP_596869.4:p.Lys15164Arg | |
| NM_133432.3:c.26375A>G (TTN) | NP_597676.3:p.Lys8792Arg | |
| NM_133437.4:c.26576A>G (TTN) | NP_597681.4:p.Lys8859Arg | |
| NR_038271.1:n.683-674T>C (TTN-AS1) | ||
| XM_011511729.1:c.52292A>G (TTN) | XP_011510031.1:p.Lys17431Arg | |
| XM_011511730.1:c.26186A>G (TTN) | XP_011510032.1:p.Lys8729Arg | |
| XM_011511731.1:c.26045A>G (TTN) | XP_011510033.1:p.Lys8682Arg | |
| XM_017004819.1:c.52088A>G (TTN) | XP_016860308.1:p.Lys17363Arg | |
| XM_017004820.1:c.47486A>G (TTN) | XP_016860309.1:p.Lys15829Arg | |
| XM_017004821.1:c.47483A>G (TTN) | XP_016860310.1:p.Lys15828Arg | |
| XM_017004822.1:c.44525A>G (TTN) | XP_016860311.1:p.Lys14842Arg | |
| XM_017004823.1:c.26141A>G (TTN) | XP_016860312.1:p.Lys8714Arg | |
| XM_024453094.1:c.47636A>G (TTN) | XP_024308862.1:p.Lys15879Arg | |
| XM_024453095.1:c.47633A>G (TTN) | XP_024308863.1:p.Lys15878Arg | |
| XM_024453096.1:c.47066A>G (TTN) | XP_024308864.1:p.Lys15689Arg | |
| XM_024453097.1:c.44408A>G (TTN) | XP_024308865.1:p.Lys14803Arg | |
| XM_024453098.1:c.44327A>G (TTN) | XP_024308866.1:p.Lys14776Arg | |
| XM_024453099.1:c.26090A>G (TTN) | XP_024308867.1:p.Lys8697Arg | |
| XM_024453100.1:c.15944A>G (TTN) | XP_024308868.1:p.Lys5315Arg |