Canonical Allele Identifier: CA349450230

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543837A>T , CM000664.2:g.178543837A>T GRCh38
NC_000002.11:g.179408564A>T , CM000664.1:g.179408564A>T GRCh37
NC_000002.10:g.179116810A>T NCBI36
NG_011618.3:g.291966T>A , LRG_391:g.291966T>A
NG_051363.1:g.26011A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88603T>A (TTN) ENSP00000343764.6:p.Tyr29535Asn
ENST00000342175.11:c.69688T>A (TTN) ENSP00000340554.6:p.Tyr23230Asn
ENST00000359218.10:c.69487T>A (TTN) ENSP00000352154.5:p.Tyr23163Asn
ENST00000342175.10:c.69688T>A (TTN) ENSP00000340554.6:p.Tyr23230Asn
ENST00000342992.10:c.88603T>A (TTN) ENSP00000343764.6:p.Tyr29535Asn
ENST00000359218.9:c.69487T>A (TTN) ENSP00000352154.5:p.Tyr23163Asn
ENST00000460472.6:c.69112T>A (TTN) ENSP00000434586.1:p.Tyr23038Asn
ENST00000589042.5:c.96307T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr32103Asn
ENST00000591111.5:c.91384T>A (TTN) ENSP00000465570.1:p.Tyr30462Asn
ENST00000615779.4:c.91384T>A (TTN) ENSP00000483597.1:p.Tyr30462Asn
NM_001256850.1:c.91384T>A (TTN) NP_001243779.1:p.Tyr30462Asn
NM_001267550.2:c.96307T>A (TTN) MANE Select NP_001254479.2:p.Tyr32103Asn
NM_003319.4:c.69112T>A (TTN) NP_003310.4:p.Tyr23038Asn
NM_133378.4:c.88603T>A (TTN) NP_596869.4:p.Tyr29535Asn
NM_133432.3:c.69487T>A (TTN) NP_597676.3:p.Tyr23163Asn
NM_133437.4:c.69688T>A (TTN) NP_597681.4:p.Tyr23230Asn
NR_038271.1:n.446+20201A>T (TTN-AS1)
NR_038272.1:n.2043+1476A>T (TTN-AS1)
XM_011511729.1:c.95404T>A (TTN) XP_011510031.1:p.Tyr31802Asn
XM_011511730.1:c.69298T>A (TTN) XP_011510032.1:p.Tyr23100Asn
XM_011511731.1:c.69157T>A (TTN) XP_011510033.1:p.Tyr23053Asn
XM_017004819.1:c.95200T>A (TTN) XP_016860308.1:p.Tyr31734Asn
XM_017004820.1:c.90598T>A (TTN) XP_016860309.1:p.Tyr30200Asn
XM_017004821.1:c.90595T>A (TTN) XP_016860310.1:p.Tyr30199Asn
XM_017004822.1:c.87637T>A (TTN) XP_016860311.1:p.Tyr29213Asn
XM_017004823.1:c.69253T>A (TTN) XP_016860312.1:p.Tyr23085Asn
XM_024453094.1:c.90748T>A (TTN) XP_024308862.1:p.Tyr30250Asn
XM_024453095.1:c.90745T>A (TTN) XP_024308863.1:p.Tyr30249Asn
XM_024453096.1:c.90178T>A (TTN) XP_024308864.1:p.Tyr30060Asn
XM_024453097.1:c.87520T>A (TTN) XP_024308865.1:p.Tyr29174Asn
XM_024453098.1:c.87439T>A (TTN) XP_024308866.1:p.Tyr29147Asn
XM_024453099.1:c.69202T>A (TTN) XP_024308867.1:p.Tyr23068Asn
XM_024453100.1:c.59056T>A (TTN) XP_024308868.1:p.Tyr19686Asn