Canonical Allele Identifier: CA349503409

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551747T>A , CM000664.2:g.178551747T>A GRCh38
NC_000002.11:g.179416474T>A , CM000664.1:g.179416474T>A GRCh37
NC_000002.10:g.179124720T>A NCBI36
NG_011618.3:g.284056A>T , LRG_391:g.284056A>T
NG_051363.1:g.33921T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83449A>T (TTN) ENSP00000343764.6:p.Arg27817Ter
ENST00000342175.11:c.64534A>T (TTN) ENSP00000340554.6:p.Arg21512Ter
ENST00000359218.10:c.64333A>T (TTN) ENSP00000352154.5:p.Arg21445Ter
ENST00000342175.10:c.64534A>T (TTN) ENSP00000340554.6:p.Arg21512Ter
ENST00000342992.10:c.83449A>T (TTN) ENSP00000343764.6:p.Arg27817Ter
ENST00000359218.9:c.64333A>T (TTN) ENSP00000352154.5:p.Arg21445Ter
ENST00000460472.6:c.63958A>T (TTN) ENSP00000434586.1:p.Arg21320Ter
ENST00000589042.5:c.91153A>T (TTN) MANE Select ENSP00000467141.1:p.Arg30385Ter
ENST00000591111.5:c.86230A>T (TTN) ENSP00000465570.1:p.Arg28744Ter
ENST00000615779.4:c.86230A>T (TTN) ENSP00000483597.1:p.Arg28744Ter
NM_001256850.1:c.86230A>T (TTN) NP_001243779.1:p.Arg28744Ter
NM_001267550.2:c.91153A>T (TTN) MANE Select NP_001254479.2:p.Arg30385Ter
NM_003319.4:c.63958A>T (TTN) NP_003310.4:p.Arg21320Ter
NM_133378.4:c.83449A>T (TTN) NP_596869.4:p.Arg27817Ter
NM_133432.3:c.64333A>T (TTN) NP_597676.3:p.Arg21445Ter
NM_133437.4:c.64534A>T (TTN) NP_597681.4:p.Arg21512Ter
NR_038271.1:n.447-19553T>A (TTN-AS1)
NR_038272.1:n.2043+9386T>A (TTN-AS1)
XM_011511729.1:c.90250A>T (TTN) XP_011510031.1:p.Arg30084Ter
XM_011511730.1:c.64144A>T (TTN) XP_011510032.1:p.Arg21382Ter
XM_011511731.1:c.64003A>T (TTN) XP_011510033.1:p.Arg21335Ter
XM_017004819.1:c.90046A>T (TTN) XP_016860308.1:p.Arg30016Ter
XM_017004820.1:c.85444A>T (TTN) XP_016860309.1:p.Arg28482Ter
XM_017004821.1:c.85441A>T (TTN) XP_016860310.1:p.Arg28481Ter
XM_017004822.1:c.82483A>T (TTN) XP_016860311.1:p.Arg27495Ter
XM_017004823.1:c.64099A>T (TTN) XP_016860312.1:p.Arg21367Ter
XM_024453094.1:c.85594A>T (TTN) XP_024308862.1:p.Arg28532Ter
XM_024453095.1:c.85591A>T (TTN) XP_024308863.1:p.Arg28531Ter
XM_024453096.1:c.85024A>T (TTN) XP_024308864.1:p.Arg28342Ter
XM_024453097.1:c.82366A>T (TTN) XP_024308865.1:p.Arg27456Ter
XM_024453098.1:c.82285A>T (TTN) XP_024308866.1:p.Arg27429Ter
XM_024453099.1:c.64048A>T (TTN) XP_024308867.1:p.Arg21350Ter
XM_024453100.1:c.53902A>T (TTN) XP_024308868.1:p.Arg17968Ter