Canonical Allele Identifier: CA349588318
Community Standard Title: NM_001267550.2(TTN):c.80547T>A (p.Tyr26849Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565585A>T , CM000664.2:g.178565585A>T GRCh38
NC_000002.11:g.179430312A>T , CM000664.1:g.179430312A>T GRCh37
NC_000002.10:g.179138558A>T NCBI36
NG_011618.3:g.270218T>A , LRG_391:g.270218T>A
NG_051363.1:g.47759A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80547T>A (TTN) MANE Select NP_001254479.2:p.Tyr26849Ter
ENST00000589042.5:c.80547T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr26849Ter
NM_001256850.1:c.75624T>A (TTN) NP_001243779.1:p.Tyr25208Ter
NM_003319.4:c.53352T>A (TTN) NP_003310.4:p.Tyr17784Ter
NM_133378.4:c.72843T>A (TTN) NP_596869.4:p.Tyr24281Ter
NM_133432.3:c.53727T>A (TTN) NP_597676.3:p.Tyr17909Ter
NM_133437.4:c.53928T>A (TTN) NP_597681.4:p.Tyr17976Ter
NR_038271.1:n.447-5715A>T (TTN-AS1)
NR_038272.1:n.2044-16987A>T (TTN-AS1)
ENST00000342175.10:c.53928T>A (TTN) ENSP00000340554.6:p.Tyr17976Ter
ENST00000342175.11:c.53928T>A (TTN) ENSP00000340554.6:p.Tyr17976Ter
ENST00000342992.10:c.72843T>A (TTN) ENSP00000343764.6:p.Tyr24281Ter
ENST00000342992.11:c.72843T>A (TTN) ENSP00000343764.6:p.Tyr24281Ter
ENST00000359218.10:c.53727T>A (TTN) ENSP00000352154.5:p.Tyr17909Ter
ENST00000359218.9:c.53727T>A (TTN) ENSP00000352154.5:p.Tyr17909Ter
ENST00000460472.6:c.53352T>A (TTN) ENSP00000434586.1:p.Tyr17784Ter
ENST00000591111.5:c.75624T>A (TTN) ENSP00000465570.1:p.Tyr25208Ter
ENST00000615779.4:c.75624T>A (TTN) ENSP00000483597.1:p.Tyr25208Ter
XM_011511729.1:c.79644T>A (TTN) XP_011510031.1:p.Tyr26548Ter
XM_011511730.1:c.53538T>A (TTN) XP_011510032.1:p.Tyr17846Ter
XM_011511731.1:c.53397T>A (TTN) XP_011510033.1:p.Tyr17799Ter
XM_017004819.1:c.79440T>A (TTN) XP_016860308.1:p.Tyr26480Ter
XM_017004820.1:c.74838T>A (TTN) XP_016860309.1:p.Tyr24946Ter
XM_017004821.1:c.74835T>A (TTN) XP_016860310.1:p.Tyr24945Ter
XM_017004822.1:c.71877T>A (TTN) XP_016860311.1:p.Tyr23959Ter
XM_017004823.1:c.53493T>A (TTN) XP_016860312.1:p.Tyr17831Ter
XM_024453094.1:c.74988T>A (TTN) XP_024308862.1:p.Tyr24996Ter
XM_024453095.1:c.74985T>A (TTN) XP_024308863.1:p.Tyr24995Ter
XM_024453096.1:c.74418T>A (TTN) XP_024308864.1:p.Tyr24806Ter
XM_024453097.1:c.71760T>A (TTN) XP_024308865.1:p.Tyr23920Ter
XM_024453098.1:c.71679T>A (TTN) XP_024308866.1:p.Tyr23893Ter
XM_024453099.1:c.53442T>A (TTN) XP_024308867.1:p.Tyr17814Ter
XM_024453100.1:c.43296T>A (TTN) XP_024308868.1:p.Tyr14432Ter