Revel Score:
ENST00000342992
0.886
ENST00000460472
0.886
ENST00000342175
0.886
ENST00000359218
0.886
ENST00000356127
0.886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614639C>A , CM000664.2:g.178614639C>A | GRCh38 |
| NC_000002.11:g.179479366C>A , CM000664.1:g.179479366C>A | GRCh37 |
| NC_000002.10:g.179187611C>A | NCBI36 |
| NG_011618.3:g.221164G>T , LRG_391:g.221164G>T | |
| NG_051363.1:g.96813C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41171G>T (TTN) | ENSP00000343764.6:p.Trp13724Leu | |
| ENST00000342175.11:c.22256G>T (TTN) | ENSP00000340554.6:p.Trp7419Leu | |
| ENST00000359218.10:c.22055G>T (TTN) | ENSP00000352154.5:p.Trp7352Leu | |
| ENST00000342175.10:c.22256G>T (TTN) | ENSP00000340554.6:p.Trp7419Leu | |
| ENST00000342992.10:c.41171G>T (TTN) | ENSP00000343764.6:p.Trp13724Leu | |
| ENST00000359218.9:c.22055G>T (TTN) | ENSP00000352154.5:p.Trp7352Leu | |
| ENST00000460472.6:c.21680G>T (TTN) | ENSP00000434586.1:p.Trp7227Leu | |
| ENST00000589042.5:c.48875G>T (TTN) MANE Select | ENSP00000467141.1:p.Trp16292Leu | |
| ENST00000591111.5:c.43952G>T (TTN) | ENSP00000465570.1:p.Trp14651Leu | |
| ENST00000615779.4:c.43952G>T (TTN) | ENSP00000483597.1:p.Trp14651Leu | |
| NM_001256850.1:c.43952G>T (TTN) | NP_001243779.1:p.Trp14651Leu | |
| NM_001267550.2:c.48875G>T (TTN) MANE Select | NP_001254479.2:p.Trp16292Leu | |
| NM_003319.4:c.21680G>T (TTN) | NP_003310.4:p.Trp7227Leu | |
| NM_133378.4:c.41171G>T (TTN) | NP_596869.4:p.Trp13724Leu | |
| NM_133432.3:c.22055G>T (TTN) | NP_597676.3:p.Trp7352Leu | |
| NM_133437.4:c.22256G>T (TTN) | NP_597681.4:p.Trp7419Leu | |
| NR_038271.1:n.1387C>A (TTN-AS1) | ||
| XM_011511729.1:c.47972G>T (TTN) | XP_011510031.1:p.Trp15991Leu | |
| XM_011511730.1:c.21866G>T (TTN) | XP_011510032.1:p.Trp7289Leu | |
| XM_011511731.1:c.21725G>T (TTN) | XP_011510033.1:p.Trp7242Leu | |
| XM_017004819.1:c.47768G>T (TTN) | XP_016860308.1:p.Trp15923Leu | |
| XM_017004820.1:c.43166G>T (TTN) | XP_016860309.1:p.Trp14389Leu | |
| XM_017004821.1:c.43163G>T (TTN) | XP_016860310.1:p.Trp14388Leu | |
| XM_017004822.1:c.40205G>T (TTN) | XP_016860311.1:p.Trp13402Leu | |
| XM_017004823.1:c.21821G>T (TTN) | XP_016860312.1:p.Trp7274Leu | |
| XM_024453094.1:c.43316G>T (TTN) | XP_024308862.1:p.Trp14439Leu | |
| XM_024453095.1:c.43313G>T (TTN) | XP_024308863.1:p.Trp14438Leu | |
| XM_024453096.1:c.42746G>T (TTN) | XP_024308864.1:p.Trp14249Leu | |
| XM_024453097.1:c.40088G>T (TTN) | XP_024308865.1:p.Trp13363Leu | |
| XM_024453098.1:c.40007G>T (TTN) | XP_024308866.1:p.Trp13336Leu | |
| XM_024453099.1:c.21770G>T (TTN) | XP_024308867.1:p.Trp7257Leu | |
| XM_024453100.1:c.11624G>T (TTN) | XP_024308868.1:p.Trp3875Leu |