Canonical Allele Identifier: CA349596708
Community Standard Title: NM_001267550.2(TTN):c.50358T>A (p.Tyr16786Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178611951A>T , CM000664.2:g.178611951A>T GRCh38
NC_000002.11:g.179476678A>T , CM000664.1:g.179476678A>T GRCh37
NC_000002.10:g.179184923A>T NCBI36
NG_011618.3:g.223852T>A , LRG_391:g.223852T>A
NG_051363.1:g.94125A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50358T>A (TTN) MANE Select NP_001254479.2:p.Tyr16786Ter
ENST00000589042.5:c.50358T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr16786Ter
NM_001256850.1:c.45435T>A (TTN) NP_001243779.1:p.Tyr15145Ter
NM_003319.4:c.23163T>A (TTN) NP_003310.4:p.Tyr7721Ter
NM_133378.4:c.42654T>A (TTN) NP_596869.4:p.Tyr14218Ter
NM_133432.3:c.23538T>A (TTN) NP_597676.3:p.Tyr7846Ter
NM_133437.4:c.23739T>A (TTN) NP_597681.4:p.Tyr7913Ter
NR_038271.1:n.783-2084A>T (TTN-AS1)
ENST00000342175.10:c.23739T>A (TTN) ENSP00000340554.6:p.Tyr7913Ter
ENST00000342175.11:c.23739T>A (TTN) ENSP00000340554.6:p.Tyr7913Ter
ENST00000342992.10:c.42654T>A (TTN) ENSP00000343764.6:p.Tyr14218Ter
ENST00000342992.11:c.42654T>A (TTN) ENSP00000343764.6:p.Tyr14218Ter
ENST00000359218.10:c.23538T>A (TTN) ENSP00000352154.5:p.Tyr7846Ter
ENST00000359218.9:c.23538T>A (TTN) ENSP00000352154.5:p.Tyr7846Ter
ENST00000460472.6:c.23163T>A (TTN) ENSP00000434586.1:p.Tyr7721Ter
ENST00000591111.5:c.45435T>A (TTN) ENSP00000465570.1:p.Tyr15145Ter
ENST00000615779.4:c.45435T>A (TTN) ENSP00000483597.1:p.Tyr15145Ter
XM_011511729.1:c.49455T>A (TTN) XP_011510031.1:p.Tyr16485Ter
XM_011511730.1:c.23349T>A (TTN) XP_011510032.1:p.Tyr7783Ter
XM_011511731.1:c.23208T>A (TTN) XP_011510033.1:p.Tyr7736Ter
XM_017004819.1:c.49251T>A (TTN) XP_016860308.1:p.Tyr16417Ter
XM_017004820.1:c.44649T>A (TTN) XP_016860309.1:p.Tyr14883Ter
XM_017004821.1:c.44646T>A (TTN) XP_016860310.1:p.Tyr14882Ter
XM_017004822.1:c.41688T>A (TTN) XP_016860311.1:p.Tyr13896Ter
XM_017004823.1:c.23304T>A (TTN) XP_016860312.1:p.Tyr7768Ter
XM_024453094.1:c.44799T>A (TTN) XP_024308862.1:p.Tyr14933Ter
XM_024453095.1:c.44796T>A (TTN) XP_024308863.1:p.Tyr14932Ter
XM_024453096.1:c.44229T>A (TTN) XP_024308864.1:p.Tyr14743Ter
XM_024453097.1:c.41571T>A (TTN) XP_024308865.1:p.Tyr13857Ter
XM_024453098.1:c.41490T>A (TTN) XP_024308866.1:p.Tyr13830Ter
XM_024453099.1:c.23253T>A (TTN) XP_024308867.1:p.Tyr7751Ter
XM_024453100.1:c.13107T>A (TTN) XP_024308868.1:p.Tyr4369Ter