Canonical Allele Identifier: CA349459750

Linked Data

dbSNP Id: rs1696642086

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545477T>A , CM000664.2:g.178545477T>A GRCh38
NC_000002.11:g.179410204T>A , CM000664.1:g.179410204T>A GRCh37
NC_000002.10:g.179118450T>A NCBI36
NG_011618.3:g.290326A>T , LRG_391:g.290326A>T
NG_051363.1:g.27651T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87929A>T (TTN) ENSP00000343764.6:p.Asp29310Val
ENST00000342175.11:c.69014A>T (TTN) ENSP00000340554.6:p.Asp23005Val
ENST00000359218.10:c.68813A>T (TTN) ENSP00000352154.5:p.Asp22938Val
ENST00000342175.10:c.69014A>T (TTN) ENSP00000340554.6:p.Asp23005Val
ENST00000342992.10:c.87929A>T (TTN) ENSP00000343764.6:p.Asp29310Val
ENST00000359218.9:c.68813A>T (TTN) ENSP00000352154.5:p.Asp22938Val
ENST00000460472.6:c.68438A>T (TTN) ENSP00000434586.1:p.Asp22813Val
ENST00000589042.5:c.95633A>T (TTN) MANE Select ENSP00000467141.1:p.Asp31878Val
ENST00000591111.5:c.90710A>T (TTN) ENSP00000465570.1:p.Asp30237Val
ENST00000615779.4:c.90710A>T (TTN) ENSP00000483597.1:p.Asp30237Val
NM_001256850.1:c.90710A>T (TTN) NP_001243779.1:p.Asp30237Val
NM_001267550.2:c.95633A>T (TTN) MANE Select NP_001254479.2:p.Asp31878Val
NM_003319.4:c.68438A>T (TTN) NP_003310.4:p.Asp22813Val
NM_133378.4:c.87929A>T (TTN) NP_596869.4:p.Asp29310Val
NM_133432.3:c.68813A>T (TTN) NP_597676.3:p.Asp22938Val
NM_133437.4:c.69014A>T (TTN) NP_597681.4:p.Asp23005Val
NR_038271.1:n.446+21841T>A (TTN-AS1)
NR_038272.1:n.2043+3116T>A (TTN-AS1)
XM_011511729.1:c.94730A>T (TTN) XP_011510031.1:p.Asp31577Val
XM_011511730.1:c.68624A>T (TTN) XP_011510032.1:p.Asp22875Val
XM_011511731.1:c.68483A>T (TTN) XP_011510033.1:p.Asp22828Val
XM_017004819.1:c.94526A>T (TTN) XP_016860308.1:p.Asp31509Val
XM_017004820.1:c.89924A>T (TTN) XP_016860309.1:p.Asp29975Val
XM_017004821.1:c.89921A>T (TTN) XP_016860310.1:p.Asp29974Val
XM_017004822.1:c.86963A>T (TTN) XP_016860311.1:p.Asp28988Val
XM_017004823.1:c.68579A>T (TTN) XP_016860312.1:p.Asp22860Val
XM_024453094.1:c.90074A>T (TTN) XP_024308862.1:p.Asp30025Val
XM_024453095.1:c.90071A>T (TTN) XP_024308863.1:p.Asp30024Val
XM_024453096.1:c.89504A>T (TTN) XP_024308864.1:p.Asp29835Val
XM_024453097.1:c.86846A>T (TTN) XP_024308865.1:p.Asp28949Val
XM_024453098.1:c.86765A>T (TTN) XP_024308866.1:p.Asp28922Val
XM_024453099.1:c.68528A>T (TTN) XP_024308867.1:p.Asp22843Val
XM_024453100.1:c.58382A>T (TTN) XP_024308868.1:p.Asp19461Val