Revel Score:
ENST00000342992
0.056
ENST00000460472
0.056
ENST00000342175
0.056
ENST00000359218
0.056
ENST00000356127
0.056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584679C>A , CM000664.2:g.178584679C>A | GRCh38 |
| NC_000002.11:g.179449406C>A , CM000664.1:g.179449406C>A | GRCh37 |
| NC_000002.10:g.179157652C>A | NCBI36 |
| NG_011618.3:g.251124G>T , LRG_391:g.251124G>T | |
| NG_051363.1:g.66853C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57258G>T (TTN) | ENSP00000343764.6:p.Gln19086His | |
| ENST00000342175.11:c.38343G>T (TTN) | ENSP00000340554.6:p.Gln12781His | |
| ENST00000359218.10:c.38142G>T (TTN) | ENSP00000352154.5:p.Gln12714His | |
| ENST00000342175.10:c.38343G>T (TTN) | ENSP00000340554.6:p.Gln12781His | |
| ENST00000342992.10:c.57258G>T (TTN) | ENSP00000343764.6:p.Gln19086His | |
| ENST00000359218.9:c.38142G>T (TTN) | ENSP00000352154.5:p.Gln12714His | |
| ENST00000460472.6:c.37767G>T (TTN) | ENSP00000434586.1:p.Gln12589His | |
| ENST00000589042.5:c.64962G>T (TTN) MANE Select | ENSP00000467141.1:p.Gln21654His | |
| ENST00000591111.5:c.60039G>T (TTN) | ENSP00000465570.1:p.Gln20013His | |
| ENST00000615779.4:c.60039G>T (TTN) | ENSP00000483597.1:p.Gln20013His | |
| NM_001256850.1:c.60039G>T (TTN) | NP_001243779.1:p.Gln20013His | |
| NM_001267550.2:c.64962G>T (TTN) MANE Select | NP_001254479.2:p.Gln21654His | |
| NM_003319.4:c.37767G>T (TTN) | NP_003310.4:p.Gln12589His | |
| NM_133378.4:c.57258G>T (TTN) | NP_596869.4:p.Gln19086His | |
| NM_133432.3:c.38142G>T (TTN) | NP_597676.3:p.Gln12714His | |
| NM_133437.4:c.38343G>T (TTN) | NP_597681.4:p.Gln12781His | |
| NR_038271.1:n.597-12917C>A (TTN-AS1) | ||
| NR_038272.1:n.2874C>A (TTN-AS1) | ||
| XM_011511729.1:c.64059G>T (TTN) | XP_011510031.1:p.Gln21353His | |
| XM_011511730.1:c.37953G>T (TTN) | XP_011510032.1:p.Gln12651His | |
| XM_011511731.1:c.37812G>T (TTN) | XP_011510033.1:p.Gln12604His | |
| XM_017004819.1:c.63855G>T (TTN) | XP_016860308.1:p.Gln21285His | |
| XM_017004820.1:c.59253G>T (TTN) | XP_016860309.1:p.Gln19751His | |
| XM_017004821.1:c.59250G>T (TTN) | XP_016860310.1:p.Gln19750His | |
| XM_017004822.1:c.56292G>T (TTN) | XP_016860311.1:p.Gln18764His | |
| XM_017004823.1:c.37908G>T (TTN) | XP_016860312.1:p.Gln12636His | |
| XM_024453094.1:c.59403G>T (TTN) | XP_024308862.1:p.Gln19801His | |
| XM_024453095.1:c.59400G>T (TTN) | XP_024308863.1:p.Gln19800His | |
| XM_024453096.1:c.58833G>T (TTN) | XP_024308864.1:p.Gln19611His | |
| XM_024453097.1:c.56175G>T (TTN) | XP_024308865.1:p.Gln18725His | |
| XM_024453098.1:c.56094G>T (TTN) | XP_024308866.1:p.Gln18698His | |
| XM_024453099.1:c.37857G>T (TTN) | XP_024308867.1:p.Gln12619His | |
| XM_024453100.1:c.27711G>T (TTN) | XP_024308868.1:p.Gln9237His |