Canonical Allele Identifier: CA349596257
Community Standard Title: NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566593A>T , CM000664.2:g.178566593A>T GRCh38
NC_000002.11:g.179431320A>T , CM000664.1:g.179431320A>T GRCh37
NC_000002.10:g.179139566A>T NCBI36
NG_011618.3:g.269210T>A , LRG_391:g.269210T>A
NG_051363.1:g.48767A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79539T>A (TTN) MANE Select NP_001254479.2:p.Tyr26513Ter
ENST00000589042.5:c.79539T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr26513Ter
NM_001256850.1:c.74616T>A (TTN) NP_001243779.1:p.Tyr24872Ter
NM_003319.4:c.52344T>A (TTN) NP_003310.4:p.Tyr17448Ter
NM_133378.4:c.71835T>A (TTN) NP_596869.4:p.Tyr23945Ter
NM_133432.3:c.52719T>A (TTN) NP_597676.3:p.Tyr17573Ter
NM_133437.4:c.52920T>A (TTN) NP_597681.4:p.Tyr17640Ter
NR_038271.1:n.447-4707A>T (TTN-AS1)
NR_038272.1:n.2044-15979A>T (TTN-AS1)
ENST00000342175.10:c.52920T>A (TTN) ENSP00000340554.6:p.Tyr17640Ter
ENST00000342175.11:c.52920T>A (TTN) ENSP00000340554.6:p.Tyr17640Ter
ENST00000342992.10:c.71835T>A (TTN) ENSP00000343764.6:p.Tyr23945Ter
ENST00000342992.11:c.71835T>A (TTN) ENSP00000343764.6:p.Tyr23945Ter
ENST00000359218.10:c.52719T>A (TTN) ENSP00000352154.5:p.Tyr17573Ter
ENST00000359218.9:c.52719T>A (TTN) ENSP00000352154.5:p.Tyr17573Ter
ENST00000460472.6:c.52344T>A (TTN) ENSP00000434586.1:p.Tyr17448Ter
ENST00000591111.5:c.74616T>A (TTN) ENSP00000465570.1:p.Tyr24872Ter
ENST00000615779.4:c.74616T>A (TTN) ENSP00000483597.1:p.Tyr24872Ter
XM_011511729.1:c.78636T>A (TTN) XP_011510031.1:p.Tyr26212Ter
XM_011511730.1:c.52530T>A (TTN) XP_011510032.1:p.Tyr17510Ter
XM_011511731.1:c.52389T>A (TTN) XP_011510033.1:p.Tyr17463Ter
XM_017004819.1:c.78432T>A (TTN) XP_016860308.1:p.Tyr26144Ter
XM_017004820.1:c.73830T>A (TTN) XP_016860309.1:p.Tyr24610Ter
XM_017004821.1:c.73827T>A (TTN) XP_016860310.1:p.Tyr24609Ter
XM_017004822.1:c.70869T>A (TTN) XP_016860311.1:p.Tyr23623Ter
XM_017004823.1:c.52485T>A (TTN) XP_016860312.1:p.Tyr17495Ter
XM_024453094.1:c.73980T>A (TTN) XP_024308862.1:p.Tyr24660Ter
XM_024453095.1:c.73977T>A (TTN) XP_024308863.1:p.Tyr24659Ter
XM_024453096.1:c.73410T>A (TTN) XP_024308864.1:p.Tyr24470Ter
XM_024453097.1:c.70752T>A (TTN) XP_024308865.1:p.Tyr23584Ter
XM_024453098.1:c.70671T>A (TTN) XP_024308866.1:p.Tyr23557Ter
XM_024453099.1:c.52434T>A (TTN) XP_024308867.1:p.Tyr17478Ter
XM_024453100.1:c.42288T>A (TTN) XP_024308868.1:p.Tyr14096Ter