Canonical Allele Identifier: CA349637591
Community Standard Title: NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621867T>A , CM000664.2:g.178621867T>A GRCh38
NC_000002.11:g.179486594T>A , CM000664.1:g.179486594T>A GRCh37
NC_000002.10:g.179194839T>A NCBI36
NG_011618.3:g.213936A>T , LRG_391:g.213936A>T
NG_051363.1:g.104041T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45055A>T MANE Select NP_001254479.2:p.Arg15019Ter
ENST00000589042.5:c.45055A>T MANE Select ENSP00000467141.1:p.Arg15019Ter
NM_001256850.1:c.40132A>T NP_001243779.1:p.Arg13378Ter
NM_003319.4:c.17860A>T NP_003310.4:p.Arg5954Ter
NM_133378.4:c.37351A>T NP_596869.4:p.Arg12451Ter
NM_133432.3:c.18235A>T NP_597676.3:p.Arg6079Ter
NM_133437.4:c.18436A>T NP_597681.4:p.Arg6146Ter
ENST00000342175.10:c.18436A>T ENSP00000340554.6:p.Arg6146Ter
ENST00000342175.11:c.18436A>T ENSP00000340554.6:p.Arg6146Ter
ENST00000342992.10:c.37351A>T ENSP00000343764.6:p.Arg12451Ter
ENST00000342992.11:c.37351A>T ENSP00000343764.6:p.Arg12451Ter
ENST00000359218.10:c.18235A>T ENSP00000352154.5:p.Arg6079Ter
ENST00000359218.9:c.18235A>T ENSP00000352154.5:p.Arg6079Ter
ENST00000460472.6:c.17860A>T ENSP00000434586.1:p.Arg5954Ter
ENST00000591111.5:c.40132A>T ENSP00000465570.1:p.Arg13378Ter
ENST00000615779.4:c.40132A>T ENSP00000483597.1:p.Arg13378Ter
XM_011511729.1:c.44152A>T XP_011510031.1:p.Arg14718Ter
XM_011511730.1:c.18046A>T XP_011510032.1:p.Arg6016Ter
XM_011511731.1:c.17905A>T XP_011510033.1:p.Arg5969Ter
XM_017004819.1:c.43948A>T XP_016860308.1:p.Arg14650Ter
XM_017004820.1:c.39346A>T XP_016860309.1:p.Arg13116Ter
XM_017004821.1:c.39343A>T XP_016860310.1:p.Arg13115Ter
XM_017004822.1:c.36385A>T XP_016860311.1:p.Arg12129Ter
XM_017004823.1:c.18001A>T XP_016860312.1:p.Arg6001Ter
XM_024453094.1:c.39496A>T XP_024308862.1:p.Arg13166Ter
XM_024453095.1:c.39493A>T XP_024308863.1:p.Arg13165Ter
XM_024453096.1:c.38926A>T XP_024308864.1:p.Arg12976Ter
XM_024453097.1:c.36268A>T XP_024308865.1:p.Arg12090Ter
XM_024453098.1:c.36187A>T XP_024308866.1:p.Arg12063Ter
XM_024453099.1:c.17950A>T XP_024308867.1:p.Arg5984Ter
XM_024453100.1:c.7804A>T XP_024308868.1:p.Arg2602Ter