Canonical Allele Identifier: CA349584593
Community Standard Title: NM_001267550.2(TTN):c.80997T>A (p.Tyr26999Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565135A>T , CM000664.2:g.178565135A>T GRCh38
NC_000002.11:g.179429862A>T , CM000664.1:g.179429862A>T GRCh37
NC_000002.10:g.179138108A>T NCBI36
NG_011618.3:g.270668T>A , LRG_391:g.270668T>A
NG_051363.1:g.47309A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80997T>A (TTN) MANE Select NP_001254479.2:p.Tyr26999Ter
ENST00000589042.5:c.80997T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr26999Ter
NM_001256850.1:c.76074T>A (TTN) NP_001243779.1:p.Tyr25358Ter
NM_003319.4:c.53802T>A (TTN) NP_003310.4:p.Tyr17934Ter
NM_133378.4:c.73293T>A (TTN) NP_596869.4:p.Tyr24431Ter
NM_133432.3:c.54177T>A (TTN) NP_597676.3:p.Tyr18059Ter
NM_133437.4:c.54378T>A (TTN) NP_597681.4:p.Tyr18126Ter
NR_038271.1:n.447-6165A>T (TTN-AS1)
NR_038272.1:n.2044-17437A>T (TTN-AS1)
ENST00000342175.10:c.54378T>A (TTN) ENSP00000340554.6:p.Tyr18126Ter
ENST00000342175.11:c.54378T>A (TTN) ENSP00000340554.6:p.Tyr18126Ter
ENST00000342992.10:c.73293T>A (TTN) ENSP00000343764.6:p.Tyr24431Ter
ENST00000342992.11:c.73293T>A (TTN) ENSP00000343764.6:p.Tyr24431Ter
ENST00000359218.10:c.54177T>A (TTN) ENSP00000352154.5:p.Tyr18059Ter
ENST00000359218.9:c.54177T>A (TTN) ENSP00000352154.5:p.Tyr18059Ter
ENST00000460472.6:c.53802T>A (TTN) ENSP00000434586.1:p.Tyr17934Ter
ENST00000591111.5:c.76074T>A (TTN) ENSP00000465570.1:p.Tyr25358Ter
ENST00000615779.4:c.76074T>A (TTN) ENSP00000483597.1:p.Tyr25358Ter
XM_011511729.1:c.80094T>A (TTN) XP_011510031.1:p.Tyr26698Ter
XM_011511730.1:c.53988T>A (TTN) XP_011510032.1:p.Tyr17996Ter
XM_011511731.1:c.53847T>A (TTN) XP_011510033.1:p.Tyr17949Ter
XM_017004819.1:c.79890T>A (TTN) XP_016860308.1:p.Tyr26630Ter
XM_017004820.1:c.75288T>A (TTN) XP_016860309.1:p.Tyr25096Ter
XM_017004821.1:c.75285T>A (TTN) XP_016860310.1:p.Tyr25095Ter
XM_017004822.1:c.72327T>A (TTN) XP_016860311.1:p.Tyr24109Ter
XM_017004823.1:c.53943T>A (TTN) XP_016860312.1:p.Tyr17981Ter
XM_024453094.1:c.75438T>A (TTN) XP_024308862.1:p.Tyr25146Ter
XM_024453095.1:c.75435T>A (TTN) XP_024308863.1:p.Tyr25145Ter
XM_024453096.1:c.74868T>A (TTN) XP_024308864.1:p.Tyr24956Ter
XM_024453097.1:c.72210T>A (TTN) XP_024308865.1:p.Tyr24070Ter
XM_024453098.1:c.72129T>A (TTN) XP_024308866.1:p.Tyr24043Ter
XM_024453099.1:c.53892T>A (TTN) XP_024308867.1:p.Tyr17964Ter
XM_024453100.1:c.43746T>A (TTN) XP_024308868.1:p.Tyr14582Ter