Revel Score:
ENST00000342992
0.025
ENST00000460472
0.025
ENST00000342175
0.025
ENST00000359218
0.025
ENST00000356127
0.025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584669C>T , CM000664.2:g.178584669C>T | GRCh38 |
| NC_000002.11:g.179449396C>T , CM000664.1:g.179449396C>T | GRCh37 |
| NC_000002.10:g.179157642C>T | NCBI36 |
| NG_011618.3:g.251134G>A , LRG_391:g.251134G>A | |
| NG_051363.1:g.66843C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57268G>A (TTN) | ENSP00000343764.6:p.Gly19090Ser | |
| ENST00000342175.11:c.38353G>A (TTN) | ENSP00000340554.6:p.Gly12785Ser | |
| ENST00000359218.10:c.38152G>A (TTN) | ENSP00000352154.5:p.Gly12718Ser | |
| ENST00000342175.10:c.38353G>A (TTN) | ENSP00000340554.6:p.Gly12785Ser | |
| ENST00000342992.10:c.57268G>A (TTN) | ENSP00000343764.6:p.Gly19090Ser | |
| ENST00000359218.9:c.38152G>A (TTN) | ENSP00000352154.5:p.Gly12718Ser | |
| ENST00000460472.6:c.37777G>A (TTN) | ENSP00000434586.1:p.Gly12593Ser | |
| ENST00000589042.5:c.64972G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly21658Ser | |
| ENST00000591111.5:c.60049G>A (TTN) | ENSP00000465570.1:p.Gly20017Ser | |
| ENST00000615779.4:c.60049G>A (TTN) | ENSP00000483597.1:p.Gly20017Ser | |
| NM_001256850.1:c.60049G>A (TTN) | NP_001243779.1:p.Gly20017Ser | |
| NM_001267550.2:c.64972G>A (TTN) MANE Select | NP_001254479.2:p.Gly21658Ser | |
| NM_003319.4:c.37777G>A (TTN) | NP_003310.4:p.Gly12593Ser | |
| NM_133378.4:c.57268G>A (TTN) | NP_596869.4:p.Gly19090Ser | |
| NM_133432.3:c.38152G>A (TTN) | NP_597676.3:p.Gly12718Ser | |
| NM_133437.4:c.38353G>A (TTN) | NP_597681.4:p.Gly12785Ser | |
| NR_038271.1:n.597-12927C>T (TTN-AS1) | ||
| NR_038272.1:n.2864C>T (TTN-AS1) | ||
| XM_011511729.1:c.64069G>A (TTN) | XP_011510031.1:p.Gly21357Ser | |
| XM_011511730.1:c.37963G>A (TTN) | XP_011510032.1:p.Gly12655Ser | |
| XM_011511731.1:c.37822G>A (TTN) | XP_011510033.1:p.Gly12608Ser | |
| XM_017004819.1:c.63865G>A (TTN) | XP_016860308.1:p.Gly21289Ser | |
| XM_017004820.1:c.59263G>A (TTN) | XP_016860309.1:p.Gly19755Ser | |
| XM_017004821.1:c.59260G>A (TTN) | XP_016860310.1:p.Gly19754Ser | |
| XM_017004822.1:c.56302G>A (TTN) | XP_016860311.1:p.Gly18768Ser | |
| XM_017004823.1:c.37918G>A (TTN) | XP_016860312.1:p.Gly12640Ser | |
| XM_024453094.1:c.59413G>A (TTN) | XP_024308862.1:p.Gly19805Ser | |
| XM_024453095.1:c.59410G>A (TTN) | XP_024308863.1:p.Gly19804Ser | |
| XM_024453096.1:c.58843G>A (TTN) | XP_024308864.1:p.Gly19615Ser | |
| XM_024453097.1:c.56185G>A (TTN) | XP_024308865.1:p.Gly18729Ser | |
| XM_024453098.1:c.56104G>A (TTN) | XP_024308866.1:p.Gly18702Ser | |
| XM_024453099.1:c.37867G>A (TTN) | XP_024308867.1:p.Gly12623Ser | |
| XM_024453100.1:c.27721G>A (TTN) | XP_024308868.1:p.Gly9241Ser |