Canonical Allele Identifier: CA349495538

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549768T>C , CM000664.2:g.178549768T>C GRCh38
NC_000002.11:g.179414495T>C , CM000664.1:g.179414495T>C GRCh37
NC_000002.10:g.179122741T>C NCBI36
NG_011618.3:g.286035A>G , LRG_391:g.286035A>G
NG_051363.1:g.31942T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84250A>G (TTN) ENSP00000343764.6:p.Ile28084Val
ENST00000342175.11:c.65335A>G (TTN) ENSP00000340554.6:p.Ile21779Val
ENST00000359218.10:c.65134A>G (TTN) ENSP00000352154.5:p.Ile21712Val
ENST00000342175.10:c.65335A>G (TTN) ENSP00000340554.6:p.Ile21779Val
ENST00000342992.10:c.84250A>G (TTN) ENSP00000343764.6:p.Ile28084Val
ENST00000359218.9:c.65134A>G (TTN) ENSP00000352154.5:p.Ile21712Val
ENST00000460472.6:c.64759A>G (TTN) ENSP00000434586.1:p.Ile21587Val
ENST00000589042.5:c.91954A>G (TTN) MANE Select ENSP00000467141.1:p.Ile30652Val
ENST00000591111.5:c.87031A>G (TTN) ENSP00000465570.1:p.Ile29011Val
ENST00000615779.4:c.87031A>G (TTN) ENSP00000483597.1:p.Ile29011Val
NM_001256850.1:c.87031A>G (TTN) NP_001243779.1:p.Ile29011Val
NM_001267550.2:c.91954A>G (TTN) MANE Select NP_001254479.2:p.Ile30652Val
NM_003319.4:c.64759A>G (TTN) NP_003310.4:p.Ile21587Val
NM_133378.4:c.84250A>G (TTN) NP_596869.4:p.Ile28084Val
NM_133432.3:c.65134A>G (TTN) NP_597676.3:p.Ile21712Val
NM_133437.4:c.65335A>G (TTN) NP_597681.4:p.Ile21779Val
NR_038271.1:n.447-21532T>C (TTN-AS1)
NR_038272.1:n.2043+7407T>C (TTN-AS1)
XM_011511729.1:c.91051A>G (TTN) XP_011510031.1:p.Ile30351Val
XM_011511730.1:c.64945A>G (TTN) XP_011510032.1:p.Ile21649Val
XM_011511731.1:c.64804A>G (TTN) XP_011510033.1:p.Ile21602Val
XM_017004819.1:c.90847A>G (TTN) XP_016860308.1:p.Ile30283Val
XM_017004820.1:c.86245A>G (TTN) XP_016860309.1:p.Ile28749Val
XM_017004821.1:c.86242A>G (TTN) XP_016860310.1:p.Ile28748Val
XM_017004822.1:c.83284A>G (TTN) XP_016860311.1:p.Ile27762Val
XM_017004823.1:c.64900A>G (TTN) XP_016860312.1:p.Ile21634Val
XM_024453094.1:c.86395A>G (TTN) XP_024308862.1:p.Ile28799Val
XM_024453095.1:c.86392A>G (TTN) XP_024308863.1:p.Ile28798Val
XM_024453096.1:c.85825A>G (TTN) XP_024308864.1:p.Ile28609Val
XM_024453097.1:c.83167A>G (TTN) XP_024308865.1:p.Ile27723Val
XM_024453098.1:c.83086A>G (TTN) XP_024308866.1:p.Ile27696Val
XM_024453099.1:c.64849A>G (TTN) XP_024308867.1:p.Ile21617Val
XM_024453100.1:c.54703A>G (TTN) XP_024308868.1:p.Ile18235Val