Canonical Allele Identifier: CA349456003

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544308T>A , CM000664.2:g.178544308T>A GRCh38
NC_000002.11:g.179409035T>A , CM000664.1:g.179409035T>A GRCh37
NC_000002.10:g.179117281T>A NCBI36
NG_011618.3:g.291495A>T , LRG_391:g.291495A>T
NG_051363.1:g.26482T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88217A>T (TTN) ENSP00000343764.6:p.Asp29406Val
ENST00000342175.11:c.69302A>T (TTN) ENSP00000340554.6:p.Asp23101Val
ENST00000359218.10:c.69101A>T (TTN) ENSP00000352154.5:p.Asp23034Val
ENST00000342175.10:c.69302A>T (TTN) ENSP00000340554.6:p.Asp23101Val
ENST00000342992.10:c.88217A>T (TTN) ENSP00000343764.6:p.Asp29406Val
ENST00000359218.9:c.69101A>T (TTN) ENSP00000352154.5:p.Asp23034Val
ENST00000460472.6:c.68726A>T (TTN) ENSP00000434586.1:p.Asp22909Val
ENST00000589042.5:c.95921A>T (TTN) MANE Select ENSP00000467141.1:p.Asp31974Val
ENST00000591111.5:c.90998A>T (TTN) ENSP00000465570.1:p.Asp30333Val
ENST00000615779.4:c.90998A>T (TTN) ENSP00000483597.1:p.Asp30333Val
NM_001256850.1:c.90998A>T (TTN) NP_001243779.1:p.Asp30333Val
NM_001267550.2:c.95921A>T (TTN) MANE Select NP_001254479.2:p.Asp31974Val
NM_003319.4:c.68726A>T (TTN) NP_003310.4:p.Asp22909Val
NM_133378.4:c.88217A>T (TTN) NP_596869.4:p.Asp29406Val
NM_133432.3:c.69101A>T (TTN) NP_597676.3:p.Asp23034Val
NM_133437.4:c.69302A>T (TTN) NP_597681.4:p.Asp23101Val
NR_038271.1:n.446+20672T>A (TTN-AS1)
NR_038272.1:n.2043+1947T>A (TTN-AS1)
XM_011511729.1:c.95018A>T (TTN) XP_011510031.1:p.Asp31673Val
XM_011511730.1:c.68912A>T (TTN) XP_011510032.1:p.Asp22971Val
XM_011511731.1:c.68771A>T (TTN) XP_011510033.1:p.Asp22924Val
XM_017004819.1:c.94814A>T (TTN) XP_016860308.1:p.Asp31605Val
XM_017004820.1:c.90212A>T (TTN) XP_016860309.1:p.Asp30071Val
XM_017004821.1:c.90209A>T (TTN) XP_016860310.1:p.Asp30070Val
XM_017004822.1:c.87251A>T (TTN) XP_016860311.1:p.Asp29084Val
XM_017004823.1:c.68867A>T (TTN) XP_016860312.1:p.Asp22956Val
XM_024453094.1:c.90362A>T (TTN) XP_024308862.1:p.Asp30121Val
XM_024453095.1:c.90359A>T (TTN) XP_024308863.1:p.Asp30120Val
XM_024453096.1:c.89792A>T (TTN) XP_024308864.1:p.Asp29931Val
XM_024453097.1:c.87134A>T (TTN) XP_024308865.1:p.Asp29045Val
XM_024453098.1:c.87053A>T (TTN) XP_024308866.1:p.Asp29018Val
XM_024453099.1:c.68816A>T (TTN) XP_024308867.1:p.Asp22939Val
XM_024453100.1:c.58670A>T (TTN) XP_024308868.1:p.Asp19557Val