Revel Score:
ENST00000342992
0.132
ENST00000460472
0.132
ENST00000342175
0.132
ENST00000359218
0.132
ENST00000356127
0.132
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614537G>T , CM000664.2:g.178614537G>T | GRCh38 |
| NC_000002.11:g.179479264G>T , CM000664.1:g.179479264G>T | GRCh37 |
| NC_000002.10:g.179187509G>T | NCBI36 |
| NG_011618.3:g.221266C>A , LRG_391:g.221266C>A | |
| NG_051363.1:g.96711G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41273C>A (TTN) | ENSP00000343764.6:p.Thr13758Asn | |
| ENST00000342175.11:c.22358C>A (TTN) | ENSP00000340554.6:p.Thr7453Asn | |
| ENST00000359218.10:c.22157C>A (TTN) | ENSP00000352154.5:p.Thr7386Asn | |
| ENST00000342175.10:c.22358C>A (TTN) | ENSP00000340554.6:p.Thr7453Asn | |
| ENST00000342992.10:c.41273C>A (TTN) | ENSP00000343764.6:p.Thr13758Asn | |
| ENST00000359218.9:c.22157C>A (TTN) | ENSP00000352154.5:p.Thr7386Asn | |
| ENST00000460472.6:c.21782C>A (TTN) | ENSP00000434586.1:p.Thr7261Asn | |
| ENST00000589042.5:c.48977C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr16326Asn | |
| ENST00000591111.5:c.44054C>A (TTN) | ENSP00000465570.1:p.Thr14685Asn | |
| ENST00000615779.4:c.44054C>A (TTN) | ENSP00000483597.1:p.Thr14685Asn | |
| NM_001256850.1:c.44054C>A (TTN) | NP_001243779.1:p.Thr14685Asn | |
| NM_001267550.2:c.48977C>A (TTN) MANE Select | NP_001254479.2:p.Thr16326Asn | |
| NM_003319.4:c.21782C>A (TTN) | NP_003310.4:p.Thr7261Asn | |
| NM_133378.4:c.41273C>A (TTN) | NP_596869.4:p.Thr13758Asn | |
| NM_133432.3:c.22157C>A (TTN) | NP_597676.3:p.Thr7386Asn | |
| NM_133437.4:c.22358C>A (TTN) | NP_597681.4:p.Thr7453Asn | |
| NR_038271.1:n.1285G>T (TTN-AS1) | ||
| XM_011511729.1:c.48074C>A (TTN) | XP_011510031.1:p.Thr16025Asn | |
| XM_011511730.1:c.21968C>A (TTN) | XP_011510032.1:p.Thr7323Asn | |
| XM_011511731.1:c.21827C>A (TTN) | XP_011510033.1:p.Thr7276Asn | |
| XM_017004819.1:c.47870C>A (TTN) | XP_016860308.1:p.Thr15957Asn | |
| XM_017004820.1:c.43268C>A (TTN) | XP_016860309.1:p.Thr14423Asn | |
| XM_017004821.1:c.43265C>A (TTN) | XP_016860310.1:p.Thr14422Asn | |
| XM_017004822.1:c.40307C>A (TTN) | XP_016860311.1:p.Thr13436Asn | |
| XM_017004823.1:c.21923C>A (TTN) | XP_016860312.1:p.Thr7308Asn | |
| XM_024453094.1:c.43418C>A (TTN) | XP_024308862.1:p.Thr14473Asn | |
| XM_024453095.1:c.43415C>A (TTN) | XP_024308863.1:p.Thr14472Asn | |
| XM_024453096.1:c.42848C>A (TTN) | XP_024308864.1:p.Thr14283Asn | |
| XM_024453097.1:c.40190C>A (TTN) | XP_024308865.1:p.Thr13397Asn | |
| XM_024453098.1:c.40109C>A (TTN) | XP_024308866.1:p.Thr13370Asn | |
| XM_024453099.1:c.21872C>A (TTN) | XP_024308867.1:p.Thr7291Asn | |
| XM_024453100.1:c.11726C>A (TTN) | XP_024308868.1:p.Thr3909Asn |