Revel Score:
ENST00000342992
0.501
ENST00000460472
0.501
ENST00000342175
0.501
ENST00000359218
0.501
ENST00000356127
0.501
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178586717C>A , CM000664.2:g.178586717C>A | GRCh38 |
| NC_000002.11:g.179451444C>A , CM000664.1:g.179451444C>A | GRCh37 |
| NC_000002.10:g.179159690C>A | NCBI36 |
| NG_011618.3:g.249086G>T , LRG_391:g.249086G>T | |
| NG_051363.1:g.68891C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56480G>T (TTN) | ENSP00000343764.6:p.Gly18827Val | |
| ENST00000342175.11:c.37565G>T (TTN) | ENSP00000340554.6:p.Gly12522Val | |
| ENST00000359218.10:c.37364G>T (TTN) | ENSP00000352154.5:p.Gly12455Val | |
| ENST00000342175.10:c.37565G>T (TTN) | ENSP00000340554.6:p.Gly12522Val | |
| ENST00000342992.10:c.56480G>T (TTN) | ENSP00000343764.6:p.Gly18827Val | |
| ENST00000359218.9:c.37364G>T (TTN) | ENSP00000352154.5:p.Gly12455Val | |
| ENST00000460472.6:c.36989G>T (TTN) | ENSP00000434586.1:p.Gly12330Val | |
| ENST00000589042.5:c.64184G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly21395Val | |
| ENST00000591111.5:c.59261G>T (TTN) | ENSP00000465570.1:p.Gly19754Val | |
| ENST00000615779.4:c.59261G>T (TTN) | ENSP00000483597.1:p.Gly19754Val | |
| NM_001256850.1:c.59261G>T (TTN) | NP_001243779.1:p.Gly19754Val | |
| NM_001267550.2:c.64184G>T (TTN) MANE Select | NP_001254479.2:p.Gly21395Val | |
| NM_003319.4:c.36989G>T (TTN) | NP_003310.4:p.Gly12330Val | |
| NM_133378.4:c.56480G>T (TTN) | NP_596869.4:p.Gly18827Val | |
| NM_133432.3:c.37364G>T (TTN) | NP_597676.3:p.Gly12455Val | |
| NM_133437.4:c.37565G>T (TTN) | NP_597681.4:p.Gly12522Val | |
| NR_038271.1:n.597-10879C>A (TTN-AS1) | ||
| NR_038272.1:n.3188+1724C>A (TTN-AS1) | ||
| XM_011511729.1:c.63281G>T (TTN) | XP_011510031.1:p.Gly21094Val | |
| XM_011511730.1:c.37175G>T (TTN) | XP_011510032.1:p.Gly12392Val | |
| XM_011511731.1:c.37034G>T (TTN) | XP_011510033.1:p.Gly12345Val | |
| XM_017004819.1:c.63077G>T (TTN) | XP_016860308.1:p.Gly21026Val | |
| XM_017004820.1:c.58475G>T (TTN) | XP_016860309.1:p.Gly19492Val | |
| XM_017004821.1:c.58472G>T (TTN) | XP_016860310.1:p.Gly19491Val | |
| XM_017004822.1:c.55514G>T (TTN) | XP_016860311.1:p.Gly18505Val | |
| XM_017004823.1:c.37130G>T (TTN) | XP_016860312.1:p.Gly12377Val | |
| XM_024453094.1:c.58625G>T (TTN) | XP_024308862.1:p.Gly19542Val | |
| XM_024453095.1:c.58622G>T (TTN) | XP_024308863.1:p.Gly19541Val | |
| XM_024453096.1:c.58055G>T (TTN) | XP_024308864.1:p.Gly19352Val | |
| XM_024453097.1:c.55397G>T (TTN) | XP_024308865.1:p.Gly18466Val | |
| XM_024453098.1:c.55316G>T (TTN) | XP_024308866.1:p.Gly18439Val | |
| XM_024453099.1:c.37079G>T (TTN) | XP_024308867.1:p.Gly12360Val | |
| XM_024453100.1:c.26933G>T (TTN) | XP_024308868.1:p.Gly8978Val |