Canonical Allele Identifier: CA349510299
Community Standard Title: NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552405C>T , CM000664.2:g.178552405C>T GRCh38
NC_000002.11:g.179417132C>T , CM000664.1:g.179417132C>T GRCh37
NC_000002.10:g.179125378C>T NCBI36
NG_011618.3:g.283398G>A , LRG_391:g.283398G>A
NG_051363.1:g.34579C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90495G>A (TTN) MANE Select NP_001254479.2:p.Trp30165Ter
ENST00000589042.5:c.90495G>A (TTN) MANE Select ENSP00000467141.1:p.Trp30165Ter
NM_001256850.1:c.85572G>A (TTN) NP_001243779.1:p.Trp28524Ter
NM_003319.4:c.63300G>A (TTN) NP_003310.4:p.Trp21100Ter
NM_133378.4:c.82791G>A (TTN) NP_596869.4:p.Trp27597Ter
NM_133432.3:c.63675G>A (TTN) NP_597676.3:p.Trp21225Ter
NM_133437.4:c.63876G>A (TTN) NP_597681.4:p.Trp21292Ter
NR_038271.1:n.447-18895C>T (TTN-AS1)
NR_038272.1:n.2043+10044C>T (TTN-AS1)
ENST00000342175.10:c.63876G>A (TTN) ENSP00000340554.6:p.Trp21292Ter
ENST00000342175.11:c.63876G>A (TTN) ENSP00000340554.6:p.Trp21292Ter
ENST00000342992.10:c.82791G>A (TTN) ENSP00000343764.6:p.Trp27597Ter
ENST00000342992.11:c.82791G>A (TTN) ENSP00000343764.6:p.Trp27597Ter
ENST00000359218.10:c.63675G>A (TTN) ENSP00000352154.5:p.Trp21225Ter
ENST00000359218.9:c.63675G>A (TTN) ENSP00000352154.5:p.Trp21225Ter
ENST00000460472.6:c.63300G>A (TTN) ENSP00000434586.1:p.Trp21100Ter
ENST00000591111.5:c.85572G>A (TTN) ENSP00000465570.1:p.Trp28524Ter
ENST00000615779.4:c.85572G>A (TTN) ENSP00000483597.1:p.Trp28524Ter
XM_011511729.1:c.89592G>A (TTN) XP_011510031.1:p.Trp29864Ter
XM_011511730.1:c.63486G>A (TTN) XP_011510032.1:p.Trp21162Ter
XM_011511731.1:c.63345G>A (TTN) XP_011510033.1:p.Trp21115Ter
XM_017004819.1:c.89388G>A (TTN) XP_016860308.1:p.Trp29796Ter
XM_017004820.1:c.84786G>A (TTN) XP_016860309.1:p.Trp28262Ter
XM_017004821.1:c.84783G>A (TTN) XP_016860310.1:p.Trp28261Ter
XM_017004822.1:c.81825G>A (TTN) XP_016860311.1:p.Trp27275Ter
XM_017004823.1:c.63441G>A (TTN) XP_016860312.1:p.Trp21147Ter
XM_024453094.1:c.84936G>A (TTN) XP_024308862.1:p.Trp28312Ter
XM_024453095.1:c.84933G>A (TTN) XP_024308863.1:p.Trp28311Ter
XM_024453096.1:c.84366G>A (TTN) XP_024308864.1:p.Trp28122Ter
XM_024453097.1:c.81708G>A (TTN) XP_024308865.1:p.Trp27236Ter
XM_024453098.1:c.81627G>A (TTN) XP_024308866.1:p.Trp27209Ter
XM_024453099.1:c.63390G>A (TTN) XP_024308867.1:p.Trp21130Ter
XM_024453100.1:c.53244G>A (TTN) XP_024308868.1:p.Trp17748Ter