Canonical Allele Identifier: CA349614277
Community Standard Title: NM_001267550.2(TTN):c.76722T>A (p.Tyr25574Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569410A>T , CM000664.2:g.178569410A>T GRCh38
NC_000002.11:g.179434137A>T , CM000664.1:g.179434137A>T GRCh37
NC_000002.10:g.179142383A>T NCBI36
NG_011618.3:g.266393T>A , LRG_391:g.266393T>A
NG_051363.1:g.51584A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.76722T>A (TTN) MANE Select NP_001254479.2:p.Tyr25574Ter
ENST00000589042.5:c.76722T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr25574Ter
NM_001256850.1:c.71799T>A (TTN) NP_001243779.1:p.Tyr23933Ter
NM_003319.4:c.49527T>A (TTN) NP_003310.4:p.Tyr16509Ter
NM_133378.4:c.69018T>A (TTN) NP_596869.4:p.Tyr23006Ter
NM_133432.3:c.49902T>A (TTN) NP_597676.3:p.Tyr16634Ter
NM_133437.4:c.50103T>A (TTN) NP_597681.4:p.Tyr16701Ter
NR_038271.1:n.447-1890A>T (TTN-AS1)
NR_038272.1:n.2044-13162A>T (TTN-AS1)
ENST00000342175.10:c.50103T>A (TTN) ENSP00000340554.6:p.Tyr16701Ter
ENST00000342175.11:c.50103T>A (TTN) ENSP00000340554.6:p.Tyr16701Ter
ENST00000342992.10:c.69018T>A (TTN) ENSP00000343764.6:p.Tyr23006Ter
ENST00000342992.11:c.69018T>A (TTN) ENSP00000343764.6:p.Tyr23006Ter
ENST00000359218.10:c.49902T>A (TTN) ENSP00000352154.5:p.Tyr16634Ter
ENST00000359218.9:c.49902T>A (TTN) ENSP00000352154.5:p.Tyr16634Ter
ENST00000460472.6:c.49527T>A (TTN) ENSP00000434586.1:p.Tyr16509Ter
ENST00000591111.5:c.71799T>A (TTN) ENSP00000465570.1:p.Tyr23933Ter
ENST00000615779.4:c.71799T>A (TTN) ENSP00000483597.1:p.Tyr23933Ter
XM_011511729.1:c.75819T>A (TTN) XP_011510031.1:p.Tyr25273Ter
XM_011511730.1:c.49713T>A (TTN) XP_011510032.1:p.Tyr16571Ter
XM_011511731.1:c.49572T>A (TTN) XP_011510033.1:p.Tyr16524Ter
XM_017004819.1:c.75615T>A (TTN) XP_016860308.1:p.Tyr25205Ter
XM_017004820.1:c.71013T>A (TTN) XP_016860309.1:p.Tyr23671Ter
XM_017004821.1:c.71010T>A (TTN) XP_016860310.1:p.Tyr23670Ter
XM_017004822.1:c.68052T>A (TTN) XP_016860311.1:p.Tyr22684Ter
XM_017004823.1:c.49668T>A (TTN) XP_016860312.1:p.Tyr16556Ter
XM_024453094.1:c.71163T>A (TTN) XP_024308862.1:p.Tyr23721Ter
XM_024453095.1:c.71160T>A (TTN) XP_024308863.1:p.Tyr23720Ter
XM_024453096.1:c.70593T>A (TTN) XP_024308864.1:p.Tyr23531Ter
XM_024453097.1:c.67935T>A (TTN) XP_024308865.1:p.Tyr22645Ter
XM_024453098.1:c.67854T>A (TTN) XP_024308866.1:p.Tyr22618Ter
XM_024453099.1:c.49617T>A (TTN) XP_024308867.1:p.Tyr16539Ter
XM_024453100.1:c.39471T>A (TTN) XP_024308868.1:p.Tyr13157Ter