Canonical Allele Identifier: CA349643327
Community Standard Title: NM_001267550.2(TTN):c.73200T>A (p.Tyr24400Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572932A>T , CM000664.2:g.178572932A>T GRCh38
NC_000002.11:g.179437659A>T , CM000664.1:g.179437659A>T GRCh37
NC_000002.10:g.179145905A>T NCBI36
NG_011618.3:g.262871T>A , LRG_391:g.262871T>A
NG_051363.1:g.55106A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.73200T>A (TTN) MANE Select NP_001254479.2:p.Tyr24400Ter
ENST00000589042.5:c.73200T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr24400Ter
NM_001256850.1:c.68277T>A (TTN) NP_001243779.1:p.Tyr22759Ter
NM_003319.4:c.46005T>A (TTN) NP_003310.4:p.Tyr15335Ter
NM_133378.4:c.65496T>A (TTN) NP_596869.4:p.Tyr21832Ter
NM_133432.3:c.46380T>A (TTN) NP_597676.3:p.Tyr15460Ter
NM_133437.4:c.46581T>A (TTN) NP_597681.4:p.Tyr15527Ter
NR_038271.1:n.596+1483A>T (TTN-AS1)
NR_038272.1:n.2044-9640A>T (TTN-AS1)
ENST00000342175.10:c.46581T>A (TTN) ENSP00000340554.6:p.Tyr15527Ter
ENST00000342175.11:c.46581T>A (TTN) ENSP00000340554.6:p.Tyr15527Ter
ENST00000342992.10:c.65496T>A (TTN) ENSP00000343764.6:p.Tyr21832Ter
ENST00000342992.11:c.65496T>A (TTN) ENSP00000343764.6:p.Tyr21832Ter
ENST00000359218.10:c.46380T>A (TTN) ENSP00000352154.5:p.Tyr15460Ter
ENST00000359218.9:c.46380T>A (TTN) ENSP00000352154.5:p.Tyr15460Ter
ENST00000460472.6:c.46005T>A (TTN) ENSP00000434586.1:p.Tyr15335Ter
ENST00000591111.5:c.68277T>A (TTN) ENSP00000465570.1:p.Tyr22759Ter
ENST00000615779.4:c.68277T>A (TTN) ENSP00000483597.1:p.Tyr22759Ter
XM_011511729.1:c.72297T>A (TTN) XP_011510031.1:p.Tyr24099Ter
XM_011511730.1:c.46191T>A (TTN) XP_011510032.1:p.Tyr15397Ter
XM_011511731.1:c.46050T>A (TTN) XP_011510033.1:p.Tyr15350Ter
XM_017004819.1:c.72093T>A (TTN) XP_016860308.1:p.Tyr24031Ter
XM_017004820.1:c.67491T>A (TTN) XP_016860309.1:p.Tyr22497Ter
XM_017004821.1:c.67488T>A (TTN) XP_016860310.1:p.Tyr22496Ter
XM_017004822.1:c.64530T>A (TTN) XP_016860311.1:p.Tyr21510Ter
XM_017004823.1:c.46146T>A (TTN) XP_016860312.1:p.Tyr15382Ter
XM_024453094.1:c.67641T>A (TTN) XP_024308862.1:p.Tyr22547Ter
XM_024453095.1:c.67638T>A (TTN) XP_024308863.1:p.Tyr22546Ter
XM_024453096.1:c.67071T>A (TTN) XP_024308864.1:p.Tyr22357Ter
XM_024453097.1:c.64413T>A (TTN) XP_024308865.1:p.Tyr21471Ter
XM_024453098.1:c.64332T>A (TTN) XP_024308866.1:p.Tyr21444Ter
XM_024453099.1:c.46095T>A (TTN) XP_024308867.1:p.Tyr15365Ter
XM_024453100.1:c.35949T>A (TTN) XP_024308868.1:p.Tyr11983Ter