Canonical Allele Identifier: CA349512687

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552670C>T , CM000664.2:g.178552670C>T GRCh38
NC_000002.11:g.179417397C>T , CM000664.1:g.179417397C>T GRCh37
NC_000002.10:g.179125643C>T NCBI36
NG_011618.3:g.283133G>A , LRG_391:g.283133G>A
NG_051363.1:g.34844C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82526G>A (TTN) ENSP00000343764.6:p.Trp27509Ter
ENST00000342175.11:c.63611G>A (TTN) ENSP00000340554.6:p.Trp21204Ter
ENST00000359218.10:c.63410G>A (TTN) ENSP00000352154.5:p.Trp21137Ter
ENST00000342175.10:c.63611G>A (TTN) ENSP00000340554.6:p.Trp21204Ter
ENST00000342992.10:c.82526G>A (TTN) ENSP00000343764.6:p.Trp27509Ter
ENST00000359218.9:c.63410G>A (TTN) ENSP00000352154.5:p.Trp21137Ter
ENST00000460472.6:c.63035G>A (TTN) ENSP00000434586.1:p.Trp21012Ter
ENST00000589042.5:c.90230G>A (TTN) MANE Select ENSP00000467141.1:p.Trp30077Ter
ENST00000591111.5:c.85307G>A (TTN) ENSP00000465570.1:p.Trp28436Ter
ENST00000615779.4:c.85307G>A (TTN) ENSP00000483597.1:p.Trp28436Ter
NM_001256850.1:c.85307G>A (TTN) NP_001243779.1:p.Trp28436Ter
NM_001267550.2:c.90230G>A (TTN) MANE Select NP_001254479.2:p.Trp30077Ter
NM_003319.4:c.63035G>A (TTN) NP_003310.4:p.Trp21012Ter
NM_133378.4:c.82526G>A (TTN) NP_596869.4:p.Trp27509Ter
NM_133432.3:c.63410G>A (TTN) NP_597676.3:p.Trp21137Ter
NM_133437.4:c.63611G>A (TTN) NP_597681.4:p.Trp21204Ter
NR_038271.1:n.447-18630C>T (TTN-AS1)
NR_038272.1:n.2043+10309C>T (TTN-AS1)
XM_011511729.1:c.89327G>A (TTN) XP_011510031.1:p.Trp29776Ter
XM_011511730.1:c.63221G>A (TTN) XP_011510032.1:p.Trp21074Ter
XM_011511731.1:c.63080G>A (TTN) XP_011510033.1:p.Trp21027Ter
XM_017004819.1:c.89123G>A (TTN) XP_016860308.1:p.Trp29708Ter
XM_017004820.1:c.84521G>A (TTN) XP_016860309.1:p.Trp28174Ter
XM_017004821.1:c.84518G>A (TTN) XP_016860310.1:p.Trp28173Ter
XM_017004822.1:c.81560G>A (TTN) XP_016860311.1:p.Trp27187Ter
XM_017004823.1:c.63176G>A (TTN) XP_016860312.1:p.Trp21059Ter
XM_024453094.1:c.84671G>A (TTN) XP_024308862.1:p.Trp28224Ter
XM_024453095.1:c.84668G>A (TTN) XP_024308863.1:p.Trp28223Ter
XM_024453096.1:c.84101G>A (TTN) XP_024308864.1:p.Trp28034Ter
XM_024453097.1:c.81443G>A (TTN) XP_024308865.1:p.Trp27148Ter
XM_024453098.1:c.81362G>A (TTN) XP_024308866.1:p.Trp27121Ter
XM_024453099.1:c.63125G>A (TTN) XP_024308867.1:p.Trp21042Ter
XM_024453100.1:c.52979G>A (TTN) XP_024308868.1:p.Trp17660Ter