Canonical Allele Identifier: CA349652991
Community Standard Title: NM_001267550.2(TTN):c.42978C>A (p.Tyr14326Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178633295G>T , CM000664.2:g.178633295G>T GRCh38
NC_000002.11:g.179498022G>T , CM000664.1:g.179498022G>T GRCh37
NC_000002.10:g.179206267G>T NCBI36
NG_011618.3:g.202508C>A , LRG_391:g.202508C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42978C>A MANE Select NP_001254479.2:p.Tyr14326Ter
ENST00000589042.5:c.42978C>A MANE Select ENSP00000467141.1:p.Tyr14326Ter
NM_001256850.1:c.38055C>A NP_001243779.1:p.Tyr12685Ter
NM_003319.4:c.15783C>A NP_003310.4:p.Tyr5261Ter
NM_133378.4:c.35274C>A NP_596869.4:p.Tyr11758Ter
NM_133432.3:c.16158C>A NP_597676.3:p.Tyr5386Ter
NM_133437.4:c.16359C>A NP_597681.4:p.Tyr5453Ter
ENST00000342175.10:c.16359C>A ENSP00000340554.6:p.Tyr5453Ter
ENST00000342175.11:c.16359C>A ENSP00000340554.6:p.Tyr5453Ter
ENST00000342992.10:c.35274C>A ENSP00000343764.6:p.Tyr11758Ter
ENST00000342992.11:c.35274C>A ENSP00000343764.6:p.Tyr11758Ter
ENST00000359218.10:c.16158C>A ENSP00000352154.5:p.Tyr5386Ter
ENST00000359218.9:c.16158C>A ENSP00000352154.5:p.Tyr5386Ter
ENST00000460472.6:c.15783C>A ENSP00000434586.1:p.Tyr5261Ter
ENST00000591111.5:c.38055C>A ENSP00000465570.1:p.Tyr12685Ter
ENST00000615779.4:c.38055C>A ENSP00000483597.1:p.Tyr12685Ter
XM_011511729.1:c.42075C>A XP_011510031.1:p.Tyr14025Ter
XM_011511730.1:c.15969C>A XP_011510032.1:p.Tyr5323Ter
XM_011511731.1:c.15828C>A XP_011510033.1:p.Tyr5276Ter
XM_017004819.1:c.41871C>A XP_016860308.1:p.Tyr13957Ter
XM_017004820.1:c.37269C>A XP_016860309.1:p.Tyr12423Ter
XM_017004821.1:c.37266C>A XP_016860310.1:p.Tyr12422Ter
XM_017004822.1:c.34308C>A XP_016860311.1:p.Tyr11436Ter
XM_017004823.1:c.15924C>A XP_016860312.1:p.Tyr5308Ter
XM_024453094.1:c.37419C>A XP_024308862.1:p.Tyr12473Ter
XM_024453095.1:c.37416C>A XP_024308863.1:p.Tyr12472Ter
XM_024453096.1:c.36849C>A XP_024308864.1:p.Tyr12283Ter
XM_024453097.1:c.34191C>A XP_024308865.1:p.Tyr11397Ter
XM_024453098.1:c.34110C>A XP_024308866.1:p.Tyr11370Ter
XM_024453099.1:c.15873C>A XP_024308867.1:p.Tyr5291Ter
XM_024453100.1:c.5727C>A XP_024308868.1:p.Tyr1909Ter