Canonical Allele Identifier: CA349456752

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544374T>A , CM000664.2:g.178544374T>A GRCh38
NC_000002.11:g.179409101T>A , CM000664.1:g.179409101T>A GRCh37
NC_000002.10:g.179117347T>A NCBI36
NG_011618.3:g.291429A>T , LRG_391:g.291429A>T
NG_051363.1:g.26548T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88151A>T (TTN) ENSP00000343764.6:p.Asp29384Val
ENST00000342175.11:c.69236A>T (TTN) ENSP00000340554.6:p.Asp23079Val
ENST00000359218.10:c.69035A>T (TTN) ENSP00000352154.5:p.Asp23012Val
ENST00000342175.10:c.69236A>T (TTN) ENSP00000340554.6:p.Asp23079Val
ENST00000342992.10:c.88151A>T (TTN) ENSP00000343764.6:p.Asp29384Val
ENST00000359218.9:c.69035A>T (TTN) ENSP00000352154.5:p.Asp23012Val
ENST00000460472.6:c.68660A>T (TTN) ENSP00000434586.1:p.Asp22887Val
ENST00000589042.5:c.95855A>T (TTN) MANE Select ENSP00000467141.1:p.Asp31952Val
ENST00000591111.5:c.90932A>T (TTN) ENSP00000465570.1:p.Asp30311Val
ENST00000615779.4:c.90932A>T (TTN) ENSP00000483597.1:p.Asp30311Val
NM_001256850.1:c.90932A>T (TTN) NP_001243779.1:p.Asp30311Val
NM_001267550.2:c.95855A>T (TTN) MANE Select NP_001254479.2:p.Asp31952Val
NM_003319.4:c.68660A>T (TTN) NP_003310.4:p.Asp22887Val
NM_133378.4:c.88151A>T (TTN) NP_596869.4:p.Asp29384Val
NM_133432.3:c.69035A>T (TTN) NP_597676.3:p.Asp23012Val
NM_133437.4:c.69236A>T (TTN) NP_597681.4:p.Asp23079Val
NR_038271.1:n.446+20738T>A (TTN-AS1)
NR_038272.1:n.2043+2013T>A (TTN-AS1)
XM_011511729.1:c.94952A>T (TTN) XP_011510031.1:p.Asp31651Val
XM_011511730.1:c.68846A>T (TTN) XP_011510032.1:p.Asp22949Val
XM_011511731.1:c.68705A>T (TTN) XP_011510033.1:p.Asp22902Val
XM_017004819.1:c.94748A>T (TTN) XP_016860308.1:p.Asp31583Val
XM_017004820.1:c.90146A>T (TTN) XP_016860309.1:p.Asp30049Val
XM_017004821.1:c.90143A>T (TTN) XP_016860310.1:p.Asp30048Val
XM_017004822.1:c.87185A>T (TTN) XP_016860311.1:p.Asp29062Val
XM_017004823.1:c.68801A>T (TTN) XP_016860312.1:p.Asp22934Val
XM_024453094.1:c.90296A>T (TTN) XP_024308862.1:p.Asp30099Val
XM_024453095.1:c.90293A>T (TTN) XP_024308863.1:p.Asp30098Val
XM_024453096.1:c.89726A>T (TTN) XP_024308864.1:p.Asp29909Val
XM_024453097.1:c.87068A>T (TTN) XP_024308865.1:p.Asp29023Val
XM_024453098.1:c.86987A>T (TTN) XP_024308866.1:p.Asp28996Val
XM_024453099.1:c.68750A>T (TTN) XP_024308867.1:p.Asp22917Val
XM_024453100.1:c.58604A>T (TTN) XP_024308868.1:p.Asp19535Val