Revel Score:
ENST00000342992
0.525
ENST00000460472
0.525
ENST00000342175
0.525
ENST00000359218
0.525
ENST00000356127
0.525
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584573G>T , CM000664.2:g.178584573G>T | GRCh38 |
| NC_000002.11:g.179449300G>T , CM000664.1:g.179449300G>T | GRCh37 |
| NC_000002.10:g.179157546G>T | NCBI36 |
| NG_011618.3:g.251230C>A , LRG_391:g.251230C>A | |
| NG_051363.1:g.66747G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57274C>A (TTN) | ENSP00000343764.6:p.Pro19092Thr | |
| ENST00000342175.11:c.38359C>A (TTN) | ENSP00000340554.6:p.Pro12787Thr | |
| ENST00000359218.10:c.38158C>A (TTN) | ENSP00000352154.5:p.Pro12720Thr | |
| ENST00000342175.10:c.38359C>A (TTN) | ENSP00000340554.6:p.Pro12787Thr | |
| ENST00000342992.10:c.57274C>A (TTN) | ENSP00000343764.6:p.Pro19092Thr | |
| ENST00000359218.9:c.38158C>A (TTN) | ENSP00000352154.5:p.Pro12720Thr | |
| ENST00000460472.6:c.37783C>A (TTN) | ENSP00000434586.1:p.Pro12595Thr | |
| ENST00000589042.5:c.64978C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro21660Thr | |
| ENST00000591111.5:c.60055C>A (TTN) | ENSP00000465570.1:p.Pro20019Thr | |
| ENST00000615779.4:c.60055C>A (TTN) | ENSP00000483597.1:p.Pro20019Thr | |
| NM_001256850.1:c.60055C>A (TTN) | NP_001243779.1:p.Pro20019Thr | |
| NM_001267550.2:c.64978C>A (TTN) MANE Select | NP_001254479.2:p.Pro21660Thr | |
| NM_003319.4:c.37783C>A (TTN) | NP_003310.4:p.Pro12595Thr | |
| NM_133378.4:c.57274C>A (TTN) | NP_596869.4:p.Pro19092Thr | |
| NM_133432.3:c.38158C>A (TTN) | NP_597676.3:p.Pro12720Thr | |
| NM_133437.4:c.38359C>A (TTN) | NP_597681.4:p.Pro12787Thr | |
| NR_038271.1:n.597-13023G>T (TTN-AS1) | ||
| NR_038272.1:n.2768G>T (TTN-AS1) | ||
| XM_011511729.1:c.64075C>A (TTN) | XP_011510031.1:p.Pro21359Thr | |
| XM_011511730.1:c.37969C>A (TTN) | XP_011510032.1:p.Pro12657Thr | |
| XM_011511731.1:c.37828C>A (TTN) | XP_011510033.1:p.Pro12610Thr | |
| XM_017004819.1:c.63871C>A (TTN) | XP_016860308.1:p.Pro21291Thr | |
| XM_017004820.1:c.59269C>A (TTN) | XP_016860309.1:p.Pro19757Thr | |
| XM_017004821.1:c.59266C>A (TTN) | XP_016860310.1:p.Pro19756Thr | |
| XM_017004822.1:c.56308C>A (TTN) | XP_016860311.1:p.Pro18770Thr | |
| XM_017004823.1:c.37924C>A (TTN) | XP_016860312.1:p.Pro12642Thr | |
| XM_024453094.1:c.59419C>A (TTN) | XP_024308862.1:p.Pro19807Thr | |
| XM_024453095.1:c.59416C>A (TTN) | XP_024308863.1:p.Pro19806Thr | |
| XM_024453096.1:c.58849C>A (TTN) | XP_024308864.1:p.Pro19617Thr | |
| XM_024453097.1:c.56191C>A (TTN) | XP_024308865.1:p.Pro18731Thr | |
| XM_024453098.1:c.56110C>A (TTN) | XP_024308866.1:p.Pro18704Thr | |
| XM_024453099.1:c.37873C>A (TTN) | XP_024308867.1:p.Pro12625Thr | |
| XM_024453100.1:c.27727C>A (TTN) | XP_024308868.1:p.Pro9243Thr |