Canonical Allele Identifier: CA349464554
Community Standard Title: NM_001267550.2(TTN):c.62526T>G (p.Tyr20842Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589199A>C , CM000664.2:g.178589199A>C GRCh38
NC_000002.11:g.179453926A>C , CM000664.1:g.179453926A>C GRCh37
NC_000002.10:g.179162172A>C NCBI36
NG_011618.3:g.246604T>G , LRG_391:g.246604T>G
NG_051363.1:g.71373A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.62526T>G (TTN) MANE Select NP_001254479.2:p.Tyr20842Ter
ENST00000589042.5:c.62526T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr20842Ter
NM_001256850.1:c.57603T>G (TTN) NP_001243779.1:p.Tyr19201Ter
NM_003319.4:c.35331T>G (TTN) NP_003310.4:p.Tyr11777Ter
NM_133378.4:c.54822T>G (TTN) NP_596869.4:p.Tyr18274Ter
NM_133432.3:c.35706T>G (TTN) NP_597676.3:p.Tyr11902Ter
NM_133437.4:c.35907T>G (TTN) NP_597681.4:p.Tyr11969Ter
NR_038271.1:n.597-8397A>C (TTN-AS1)
NR_038272.1:n.3189-1940A>C (TTN-AS1)
ENST00000342175.10:c.35907T>G (TTN) ENSP00000340554.6:p.Tyr11969Ter
ENST00000342175.11:c.35907T>G (TTN) ENSP00000340554.6:p.Tyr11969Ter
ENST00000342992.10:c.54822T>G (TTN) ENSP00000343764.6:p.Tyr18274Ter
ENST00000342992.11:c.54822T>G (TTN) ENSP00000343764.6:p.Tyr18274Ter
ENST00000359218.10:c.35706T>G (TTN) ENSP00000352154.5:p.Tyr11902Ter
ENST00000359218.9:c.35706T>G (TTN) ENSP00000352154.5:p.Tyr11902Ter
ENST00000460472.6:c.35331T>G (TTN) ENSP00000434586.1:p.Tyr11777Ter
ENST00000591111.5:c.57603T>G (TTN) ENSP00000465570.1:p.Tyr19201Ter
ENST00000615779.4:c.57603T>G (TTN) ENSP00000483597.1:p.Tyr19201Ter
XM_011511729.1:c.61623T>G (TTN) XP_011510031.1:p.Tyr20541Ter
XM_011511730.1:c.35517T>G (TTN) XP_011510032.1:p.Tyr11839Ter
XM_011511731.1:c.35376T>G (TTN) XP_011510033.1:p.Tyr11792Ter
XM_017004819.1:c.61419T>G (TTN) XP_016860308.1:p.Tyr20473Ter
XM_017004820.1:c.56817T>G (TTN) XP_016860309.1:p.Tyr18939Ter
XM_017004821.1:c.56814T>G (TTN) XP_016860310.1:p.Tyr18938Ter
XM_017004822.1:c.53856T>G (TTN) XP_016860311.1:p.Tyr17952Ter
XM_017004823.1:c.35472T>G (TTN) XP_016860312.1:p.Tyr11824Ter
XM_024453094.1:c.56967T>G (TTN) XP_024308862.1:p.Tyr18989Ter
XM_024453095.1:c.56964T>G (TTN) XP_024308863.1:p.Tyr18988Ter
XM_024453096.1:c.56397T>G (TTN) XP_024308864.1:p.Tyr18799Ter
XM_024453097.1:c.53739T>G (TTN) XP_024308865.1:p.Tyr17913Ter
XM_024453098.1:c.53658T>G (TTN) XP_024308866.1:p.Tyr17886Ter
XM_024453099.1:c.35421T>G (TTN) XP_024308867.1:p.Tyr11807Ter
XM_024453100.1:c.25275T>G (TTN) XP_024308868.1:p.Tyr8425Ter