Canonical Allele Identifier: CA349613288
Community Standard Title: NM_001267550.2(TTN):c.47797A>T (p.Arg15933Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178617198T>A , CM000664.2:g.178617198T>A GRCh38
NC_000002.11:g.179481925T>A , CM000664.1:g.179481925T>A GRCh37
NC_000002.10:g.179190170T>A NCBI36
NG_011618.3:g.218605A>T , LRG_391:g.218605A>T
NG_051363.1:g.99372T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47797A>T (TTN) MANE Select NP_001254479.2:p.Arg15933Ter
ENST00000589042.5:c.47797A>T (TTN) MANE Select ENSP00000467141.1:p.Arg15933Ter
NM_001256850.1:c.42874A>T (TTN) NP_001243779.1:p.Arg14292Ter
NM_003319.4:c.20602A>T (TTN) NP_003310.4:p.Arg6868Ter
NM_133378.4:c.40093A>T (TTN) NP_596869.4:p.Arg13365Ter
NM_133432.3:c.20977A>T (TTN) NP_597676.3:p.Arg6993Ter
NM_133437.4:c.21178A>T (TTN) NP_597681.4:p.Arg7060Ter
NR_038271.1:n.1604+1824T>A (TTN-AS1)
ENST00000342175.10:c.21178A>T (TTN) ENSP00000340554.6:p.Arg7060Ter
ENST00000342175.11:c.21178A>T (TTN) ENSP00000340554.6:p.Arg7060Ter
ENST00000342992.10:c.40093A>T (TTN) ENSP00000343764.6:p.Arg13365Ter
ENST00000342992.11:c.40093A>T (TTN) ENSP00000343764.6:p.Arg13365Ter
ENST00000359218.10:c.20977A>T (TTN) ENSP00000352154.5:p.Arg6993Ter
ENST00000359218.9:c.20977A>T (TTN) ENSP00000352154.5:p.Arg6993Ter
ENST00000460472.6:c.20602A>T (TTN) ENSP00000434586.1:p.Arg6868Ter
ENST00000591111.5:c.42874A>T (TTN) ENSP00000465570.1:p.Arg14292Ter
ENST00000615779.4:c.42874A>T (TTN) ENSP00000483597.1:p.Arg14292Ter
XM_011511729.1:c.46894A>T (TTN) XP_011510031.1:p.Arg15632Ter
XM_011511730.1:c.20788A>T (TTN) XP_011510032.1:p.Arg6930Ter
XM_011511731.1:c.20647A>T (TTN) XP_011510033.1:p.Arg6883Ter
XM_017004819.1:c.46690A>T (TTN) XP_016860308.1:p.Arg15564Ter
XM_017004820.1:c.42088A>T (TTN) XP_016860309.1:p.Arg14030Ter
XM_017004821.1:c.42085A>T (TTN) XP_016860310.1:p.Arg14029Ter
XM_017004822.1:c.39127A>T (TTN) XP_016860311.1:p.Arg13043Ter
XM_017004823.1:c.20743A>T (TTN) XP_016860312.1:p.Arg6915Ter
XM_024453094.1:c.42238A>T (TTN) XP_024308862.1:p.Arg14080Ter
XM_024453095.1:c.42235A>T (TTN) XP_024308863.1:p.Arg14079Ter
XM_024453096.1:c.41668A>T (TTN) XP_024308864.1:p.Arg13890Ter
XM_024453097.1:c.39010A>T (TTN) XP_024308865.1:p.Arg13004Ter
XM_024453098.1:c.38929A>T (TTN) XP_024308866.1:p.Arg12977Ter
XM_024453099.1:c.20692A>T (TTN) XP_024308867.1:p.Arg6898Ter
XM_024453100.1:c.10546A>T (TTN) XP_024308868.1:p.Arg3516Ter