Canonical Allele Identifier: CA349503468

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551754T>A , CM000664.2:g.178551754T>A GRCh38
NC_000002.11:g.179416481T>A , CM000664.1:g.179416481T>A GRCh37
NC_000002.10:g.179124727T>A NCBI36
NG_011618.3:g.284049A>T , LRG_391:g.284049A>T
NG_051363.1:g.33928T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83442A>T (TTN) ENSP00000343764.6:p.Arg27814Ser
ENST00000342175.11:c.64527A>T (TTN) ENSP00000340554.6:p.Arg21509Ser
ENST00000359218.10:c.64326A>T (TTN) ENSP00000352154.5:p.Arg21442Ser
ENST00000342175.10:c.64527A>T (TTN) ENSP00000340554.6:p.Arg21509Ser
ENST00000342992.10:c.83442A>T (TTN) ENSP00000343764.6:p.Arg27814Ser
ENST00000359218.9:c.64326A>T (TTN) ENSP00000352154.5:p.Arg21442Ser
ENST00000460472.6:c.63951A>T (TTN) ENSP00000434586.1:p.Arg21317Ser
ENST00000589042.5:c.91146A>T (TTN) MANE Select ENSP00000467141.1:p.Arg30382Ser
ENST00000591111.5:c.86223A>T (TTN) ENSP00000465570.1:p.Arg28741Ser
ENST00000615779.4:c.86223A>T (TTN) ENSP00000483597.1:p.Arg28741Ser
NM_001256850.1:c.86223A>T (TTN) NP_001243779.1:p.Arg28741Ser
NM_001267550.2:c.91146A>T (TTN) MANE Select NP_001254479.2:p.Arg30382Ser
NM_003319.4:c.63951A>T (TTN) NP_003310.4:p.Arg21317Ser
NM_133378.4:c.83442A>T (TTN) NP_596869.4:p.Arg27814Ser
NM_133432.3:c.64326A>T (TTN) NP_597676.3:p.Arg21442Ser
NM_133437.4:c.64527A>T (TTN) NP_597681.4:p.Arg21509Ser
NR_038271.1:n.447-19546T>A (TTN-AS1)
NR_038272.1:n.2043+9393T>A (TTN-AS1)
XM_011511729.1:c.90243A>T (TTN) XP_011510031.1:p.Arg30081Ser
XM_011511730.1:c.64137A>T (TTN) XP_011510032.1:p.Arg21379Ser
XM_011511731.1:c.63996A>T (TTN) XP_011510033.1:p.Arg21332Ser
XM_017004819.1:c.90039A>T (TTN) XP_016860308.1:p.Arg30013Ser
XM_017004820.1:c.85437A>T (TTN) XP_016860309.1:p.Arg28479Ser
XM_017004821.1:c.85434A>T (TTN) XP_016860310.1:p.Arg28478Ser
XM_017004822.1:c.82476A>T (TTN) XP_016860311.1:p.Arg27492Ser
XM_017004823.1:c.64092A>T (TTN) XP_016860312.1:p.Arg21364Ser
XM_024453094.1:c.85587A>T (TTN) XP_024308862.1:p.Arg28529Ser
XM_024453095.1:c.85584A>T (TTN) XP_024308863.1:p.Arg28528Ser
XM_024453096.1:c.85017A>T (TTN) XP_024308864.1:p.Arg28339Ser
XM_024453097.1:c.82359A>T (TTN) XP_024308865.1:p.Arg27453Ser
XM_024453098.1:c.82278A>T (TTN) XP_024308866.1:p.Arg27426Ser
XM_024453099.1:c.64041A>T (TTN) XP_024308867.1:p.Arg21347Ser
XM_024453100.1:c.53895A>T (TTN) XP_024308868.1:p.Arg17965Ser