Canonical Allele Identifier: CA349577837
Community Standard Title: NM_001267550.2(TTN):c.52041T>A (p.Tyr17347Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609269A>T , CM000664.2:g.178609269A>T GRCh38
NC_000002.11:g.179473996A>T , CM000664.1:g.179473996A>T GRCh37
NC_000002.10:g.179182241A>T NCBI36
NG_011618.3:g.226534T>A , LRG_391:g.226534T>A
NG_051363.1:g.91443A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52041T>A (TTN) MANE Select NP_001254479.2:p.Tyr17347Ter
ENST00000589042.5:c.52041T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr17347Ter
NM_001256850.1:c.47118T>A (TTN) NP_001243779.1:p.Tyr15706Ter
NM_003319.4:c.24846T>A (TTN) NP_003310.4:p.Tyr8282Ter
NM_133378.4:c.44337T>A (TTN) NP_596869.4:p.Tyr14779Ter
NM_133432.3:c.25221T>A (TTN) NP_597676.3:p.Tyr8407Ter
NM_133437.4:c.25422T>A (TTN) NP_597681.4:p.Tyr8474Ter
NR_038271.1:n.782+1003A>T (TTN-AS1)
ENST00000342175.10:c.25422T>A (TTN) ENSP00000340554.6:p.Tyr8474Ter
ENST00000342175.11:c.25422T>A (TTN) ENSP00000340554.6:p.Tyr8474Ter
ENST00000342992.10:c.44337T>A (TTN) ENSP00000343764.6:p.Tyr14779Ter
ENST00000342992.11:c.44337T>A (TTN) ENSP00000343764.6:p.Tyr14779Ter
ENST00000359218.10:c.25221T>A (TTN) ENSP00000352154.5:p.Tyr8407Ter
ENST00000359218.9:c.25221T>A (TTN) ENSP00000352154.5:p.Tyr8407Ter
ENST00000460472.6:c.24846T>A (TTN) ENSP00000434586.1:p.Tyr8282Ter
ENST00000591111.5:c.47118T>A (TTN) ENSP00000465570.1:p.Tyr15706Ter
ENST00000615779.4:c.47118T>A (TTN) ENSP00000483597.1:p.Tyr15706Ter
XM_011511729.1:c.51138T>A (TTN) XP_011510031.1:p.Tyr17046Ter
XM_011511730.1:c.25032T>A (TTN) XP_011510032.1:p.Tyr8344Ter
XM_011511731.1:c.24891T>A (TTN) XP_011510033.1:p.Tyr8297Ter
XM_017004819.1:c.50934T>A (TTN) XP_016860308.1:p.Tyr16978Ter
XM_017004820.1:c.46332T>A (TTN) XP_016860309.1:p.Tyr15444Ter
XM_017004821.1:c.46329T>A (TTN) XP_016860310.1:p.Tyr15443Ter
XM_017004822.1:c.43371T>A (TTN) XP_016860311.1:p.Tyr14457Ter
XM_017004823.1:c.24987T>A (TTN) XP_016860312.1:p.Tyr8329Ter
XM_024453094.1:c.46482T>A (TTN) XP_024308862.1:p.Tyr15494Ter
XM_024453095.1:c.46479T>A (TTN) XP_024308863.1:p.Tyr15493Ter
XM_024453096.1:c.45912T>A (TTN) XP_024308864.1:p.Tyr15304Ter
XM_024453097.1:c.43254T>A (TTN) XP_024308865.1:p.Tyr14418Ter
XM_024453098.1:c.43173T>A (TTN) XP_024308866.1:p.Tyr14391Ter
XM_024453099.1:c.24936T>A (TTN) XP_024308867.1:p.Tyr8312Ter
XM_024453100.1:c.14790T>A (TTN) XP_024308868.1:p.Tyr4930Ter