Revel Score:
ENST00000342992
0.219
ENST00000460472
0.219
ENST00000342175
0.219
ENST00000359218
0.219
ENST00000356127
0.219
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00043196 (MID)
Exomes Max Group AF
0.00045379 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609425C>A , CM000664.2:g.178609425C>A | GRCh38 |
| NC_000002.11:g.179474152C>A , CM000664.1:g.179474152C>A | GRCh37 |
| NC_000002.10:g.179182397C>A | NCBI36 |
| NG_011618.3:g.226378G>T , LRG_391:g.226378G>T | |
| NG_051363.1:g.91599C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44181G>T (TTN) | ENSP00000343764.6:p.Lys14727Asn | |
| ENST00000342175.11:c.25266G>T (TTN) | ENSP00000340554.6:p.Lys8422Asn | |
| ENST00000359218.10:c.25065G>T (TTN) | ENSP00000352154.5:p.Lys8355Asn | |
| ENST00000342175.10:c.25266G>T (TTN) | ENSP00000340554.6:p.Lys8422Asn | |
| ENST00000342992.10:c.44181G>T (TTN) | ENSP00000343764.6:p.Lys14727Asn | |
| ENST00000359218.9:c.25065G>T (TTN) | ENSP00000352154.5:p.Lys8355Asn | |
| ENST00000460472.6:c.24690G>T (TTN) | ENSP00000434586.1:p.Lys8230Asn | |
| ENST00000589042.5:c.51885G>T (TTN) MANE Select | ENSP00000467141.1:p.Lys17295Asn | |
| ENST00000591111.5:c.46962G>T (TTN) | ENSP00000465570.1:p.Lys15654Asn | |
| ENST00000615779.4:c.46962G>T (TTN) | ENSP00000483597.1:p.Lys15654Asn | |
| NM_001256850.1:c.46962G>T (TTN) | NP_001243779.1:p.Lys15654Asn | |
| NM_001267550.2:c.51885G>T (TTN) MANE Select | NP_001254479.2:p.Lys17295Asn | |
| NM_003319.4:c.24690G>T (TTN) | NP_003310.4:p.Lys8230Asn | |
| NM_133378.4:c.44181G>T (TTN) | NP_596869.4:p.Lys14727Asn | |
| NM_133432.3:c.25065G>T (TTN) | NP_597676.3:p.Lys8355Asn | |
| NM_133437.4:c.25266G>T (TTN) | NP_597681.4:p.Lys8422Asn | |
| NR_038271.1:n.782+1159C>A (TTN-AS1) | ||
| XM_011511729.1:c.50982G>T (TTN) | XP_011510031.1:p.Lys16994Asn | |
| XM_011511730.1:c.24876G>T (TTN) | XP_011510032.1:p.Lys8292Asn | |
| XM_011511731.1:c.24735G>T (TTN) | XP_011510033.1:p.Lys8245Asn | |
| XM_017004819.1:c.50778G>T (TTN) | XP_016860308.1:p.Lys16926Asn | |
| XM_017004820.1:c.46176G>T (TTN) | XP_016860309.1:p.Lys15392Asn | |
| XM_017004821.1:c.46173G>T (TTN) | XP_016860310.1:p.Lys15391Asn | |
| XM_017004822.1:c.43215G>T (TTN) | XP_016860311.1:p.Lys14405Asn | |
| XM_017004823.1:c.24831G>T (TTN) | XP_016860312.1:p.Lys8277Asn | |
| XM_024453094.1:c.46326G>T (TTN) | XP_024308862.1:p.Lys15442Asn | |
| XM_024453095.1:c.46323G>T (TTN) | XP_024308863.1:p.Lys15441Asn | |
| XM_024453096.1:c.45756G>T (TTN) | XP_024308864.1:p.Lys15252Asn | |
| XM_024453097.1:c.43098G>T (TTN) | XP_024308865.1:p.Lys14366Asn | |
| XM_024453098.1:c.43017G>T (TTN) | XP_024308866.1:p.Lys14339Asn | |
| XM_024453099.1:c.24780G>T (TTN) | XP_024308867.1:p.Lys8260Asn | |
| XM_024453100.1:c.14634G>T (TTN) | XP_024308868.1:p.Lys4878Asn |