Revel Score:
ENST00000342992
0.286
ENST00000460472
0.286
ENST00000342175
0.286
ENST00000359218
0.286
ENST00000356127
0.286
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532593T>A , CM000664.2:g.178532593T>A | GRCh38 |
| NC_000002.11:g.179397320T>A , CM000664.1:g.179397320T>A | GRCh37 |
| NC_000002.10:g.179105566T>A | NCBI36 |
| NG_011618.3:g.303210A>T , LRG_391:g.303210A>T | |
| NG_051363.1:g.14767T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96318A>T (TTN) | ENSP00000343764.6:p.Lys32106Asn | |
| ENST00000342175.11:c.77403A>T (TTN) | ENSP00000340554.6:p.Lys25801Asn | |
| ENST00000359218.10:c.77202A>T (TTN) | ENSP00000352154.5:p.Lys25734Asn | |
| ENST00000342175.10:c.77403A>T (TTN) | ENSP00000340554.6:p.Lys25801Asn | |
| ENST00000342992.10:c.96318A>T (TTN) | ENSP00000343764.6:p.Lys32106Asn | |
| ENST00000359218.9:c.77202A>T (TTN) | ENSP00000352154.5:p.Lys25734Asn | |
| ENST00000460472.6:c.76827A>T (TTN) | ENSP00000434586.1:p.Lys25609Asn | |
| ENST00000589042.5:c.104022A>T (TTN) MANE Select | ENSP00000467141.1:p.Lys34674Asn | |
| ENST00000591111.5:c.99099A>T (TTN) | ENSP00000465570.1:p.Lys33033Asn | |
| ENST00000615779.4:c.99099A>T (TTN) | ENSP00000483597.1:p.Lys33033Asn | |
| NM_001256850.1:c.99099A>T (TTN) | NP_001243779.1:p.Lys33033Asn | |
| NM_001267550.2:c.104022A>T (TTN) MANE Select | NP_001254479.2:p.Lys34674Asn | |
| NM_003319.4:c.76827A>T (TTN) | NP_003310.4:p.Lys25609Asn | |
| NM_133378.4:c.96318A>T (TTN) | NP_596869.4:p.Lys32106Asn | |
| NM_133432.3:c.77202A>T (TTN) | NP_597676.3:p.Lys25734Asn | |
| NM_133437.4:c.77403A>T (TTN) | NP_597681.4:p.Lys25801Asn | |
| NR_038271.1:n.446+8957T>A (TTN-AS1) | ||
| NR_038272.1:n.220-3139T>A (TTN-AS1) | ||
| XM_011511729.1:c.103119A>T (TTN) | XP_011510031.1:p.Lys34373Asn | |
| XM_011511730.1:c.77013A>T (TTN) | XP_011510032.1:p.Lys25671Asn | |
| XM_011511731.1:c.76872A>T (TTN) | XP_011510033.1:p.Lys25624Asn | |
| XM_017004819.1:c.102915A>T (TTN) | XP_016860308.1:p.Lys34305Asn | |
| XM_017004820.1:c.98313A>T (TTN) | XP_016860309.1:p.Lys32771Asn | |
| XM_017004821.1:c.98310A>T (TTN) | XP_016860310.1:p.Lys32770Asn | |
| XM_017004822.1:c.95352A>T (TTN) | XP_016860311.1:p.Lys31784Asn | |
| XM_017004823.1:c.76968A>T (TTN) | XP_016860312.1:p.Lys25656Asn | |
| XM_024453094.1:c.98463A>T (TTN) | XP_024308862.1:p.Lys32821Asn | |
| XM_024453095.1:c.98460A>T (TTN) | XP_024308863.1:p.Lys32820Asn | |
| XM_024453096.1:c.97893A>T (TTN) | XP_024308864.1:p.Lys32631Asn | |
| XM_024453097.1:c.95235A>T (TTN) | XP_024308865.1:p.Lys31745Asn | |
| XM_024453098.1:c.95154A>T (TTN) | XP_024308866.1:p.Lys31718Asn | |
| XM_024453099.1:c.76917A>T (TTN) | XP_024308867.1:p.Lys25639Asn | |
| XM_024453100.1:c.66771A>T (TTN) | XP_024308868.1:p.Lys22257Asn |