Canonical Allele Identifier: CA349587823
Community Standard Title: NM_001267550.2(TTN):c.80568T>A (p.Tyr26856Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565564A>T , CM000664.2:g.178565564A>T GRCh38
NC_000002.11:g.179430291A>T , CM000664.1:g.179430291A>T GRCh37
NC_000002.10:g.179138537A>T NCBI36
NG_011618.3:g.270239T>A , LRG_391:g.270239T>A
NG_051363.1:g.47738A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80568T>A (TTN) MANE Select NP_001254479.2:p.Tyr26856Ter
ENST00000589042.5:c.80568T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr26856Ter
NM_001256850.1:c.75645T>A (TTN) NP_001243779.1:p.Tyr25215Ter
NM_003319.4:c.53373T>A (TTN) NP_003310.4:p.Tyr17791Ter
NM_133378.4:c.72864T>A (TTN) NP_596869.4:p.Tyr24288Ter
NM_133432.3:c.53748T>A (TTN) NP_597676.3:p.Tyr17916Ter
NM_133437.4:c.53949T>A (TTN) NP_597681.4:p.Tyr17983Ter
NR_038271.1:n.447-5736A>T (TTN-AS1)
NR_038272.1:n.2044-17008A>T (TTN-AS1)
ENST00000342175.10:c.53949T>A (TTN) ENSP00000340554.6:p.Tyr17983Ter
ENST00000342175.11:c.53949T>A (TTN) ENSP00000340554.6:p.Tyr17983Ter
ENST00000342992.10:c.72864T>A (TTN) ENSP00000343764.6:p.Tyr24288Ter
ENST00000342992.11:c.72864T>A (TTN) ENSP00000343764.6:p.Tyr24288Ter
ENST00000359218.10:c.53748T>A (TTN) ENSP00000352154.5:p.Tyr17916Ter
ENST00000359218.9:c.53748T>A (TTN) ENSP00000352154.5:p.Tyr17916Ter
ENST00000460472.6:c.53373T>A (TTN) ENSP00000434586.1:p.Tyr17791Ter
ENST00000591111.5:c.75645T>A (TTN) ENSP00000465570.1:p.Tyr25215Ter
ENST00000615779.4:c.75645T>A (TTN) ENSP00000483597.1:p.Tyr25215Ter
XM_011511729.1:c.79665T>A (TTN) XP_011510031.1:p.Tyr26555Ter
XM_011511730.1:c.53559T>A (TTN) XP_011510032.1:p.Tyr17853Ter
XM_011511731.1:c.53418T>A (TTN) XP_011510033.1:p.Tyr17806Ter
XM_017004819.1:c.79461T>A (TTN) XP_016860308.1:p.Tyr26487Ter
XM_017004820.1:c.74859T>A (TTN) XP_016860309.1:p.Tyr24953Ter
XM_017004821.1:c.74856T>A (TTN) XP_016860310.1:p.Tyr24952Ter
XM_017004822.1:c.71898T>A (TTN) XP_016860311.1:p.Tyr23966Ter
XM_017004823.1:c.53514T>A (TTN) XP_016860312.1:p.Tyr17838Ter
XM_024453094.1:c.75009T>A (TTN) XP_024308862.1:p.Tyr25003Ter
XM_024453095.1:c.75006T>A (TTN) XP_024308863.1:p.Tyr25002Ter
XM_024453096.1:c.74439T>A (TTN) XP_024308864.1:p.Tyr24813Ter
XM_024453097.1:c.71781T>A (TTN) XP_024308865.1:p.Tyr23927Ter
XM_024453098.1:c.71700T>A (TTN) XP_024308866.1:p.Tyr23900Ter
XM_024453099.1:c.53463T>A (TTN) XP_024308867.1:p.Tyr17821Ter
XM_024453100.1:c.43317T>A (TTN) XP_024308868.1:p.Tyr14439Ter