Canonical Allele Identifier: CA349475705
Community Standard Title: NM_001267550.2(TTN):c.94286G>A (p.Trp31429Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547239C>T , CM000664.2:g.178547239C>T GRCh38
NC_000002.11:g.179411966C>T , CM000664.1:g.179411966C>T GRCh37
NC_000002.10:g.179120212C>T NCBI36
NG_011618.3:g.288564G>A , LRG_391:g.288564G>A
NG_051363.1:g.29413C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94286G>A (TTN) MANE Select NP_001254479.2:p.Trp31429Ter
ENST00000589042.5:c.94286G>A (TTN) MANE Select ENSP00000467141.1:p.Trp31429Ter
NM_001256850.1:c.89363G>A (TTN) NP_001243779.1:p.Trp29788Ter
NM_003319.4:c.67091G>A (TTN) NP_003310.4:p.Trp22364Ter
NM_133378.4:c.86582G>A (TTN) NP_596869.4:p.Trp28861Ter
NM_133432.3:c.67466G>A (TTN) NP_597676.3:p.Trp22489Ter
NM_133437.4:c.67667G>A (TTN) NP_597681.4:p.Trp22556Ter
NR_038271.1:n.446+23603C>T (TTN-AS1)
NR_038272.1:n.2043+4878C>T (TTN-AS1)
ENST00000342175.10:c.67667G>A (TTN) ENSP00000340554.6:p.Trp22556Ter
ENST00000342175.11:c.67667G>A (TTN) ENSP00000340554.6:p.Trp22556Ter
ENST00000342992.10:c.86582G>A (TTN) ENSP00000343764.6:p.Trp28861Ter
ENST00000342992.11:c.86582G>A (TTN) ENSP00000343764.6:p.Trp28861Ter
ENST00000359218.10:c.67466G>A (TTN) ENSP00000352154.5:p.Trp22489Ter
ENST00000359218.9:c.67466G>A (TTN) ENSP00000352154.5:p.Trp22489Ter
ENST00000460472.6:c.67091G>A (TTN) ENSP00000434586.1:p.Trp22364Ter
ENST00000591111.5:c.89363G>A (TTN) ENSP00000465570.1:p.Trp29788Ter
ENST00000615779.4:c.89363G>A (TTN) ENSP00000483597.1:p.Trp29788Ter
XM_011511729.1:c.93383G>A (TTN) XP_011510031.1:p.Trp31128Ter
XM_011511730.1:c.67277G>A (TTN) XP_011510032.1:p.Trp22426Ter
XM_011511731.1:c.67136G>A (TTN) XP_011510033.1:p.Trp22379Ter
XM_017004819.1:c.93179G>A (TTN) XP_016860308.1:p.Trp31060Ter
XM_017004820.1:c.88577G>A (TTN) XP_016860309.1:p.Trp29526Ter
XM_017004821.1:c.88574G>A (TTN) XP_016860310.1:p.Trp29525Ter
XM_017004822.1:c.85616G>A (TTN) XP_016860311.1:p.Trp28539Ter
XM_017004823.1:c.67232G>A (TTN) XP_016860312.1:p.Trp22411Ter
XM_024453094.1:c.88727G>A (TTN) XP_024308862.1:p.Trp29576Ter
XM_024453095.1:c.88724G>A (TTN) XP_024308863.1:p.Trp29575Ter
XM_024453096.1:c.88157G>A (TTN) XP_024308864.1:p.Trp29386Ter
XM_024453097.1:c.85499G>A (TTN) XP_024308865.1:p.Trp28500Ter
XM_024453098.1:c.85418G>A (TTN) XP_024308866.1:p.Trp28473Ter
XM_024453099.1:c.67181G>A (TTN) XP_024308867.1:p.Trp22394Ter
XM_024453100.1:c.57035G>A (TTN) XP_024308868.1:p.Trp19012Ter