Canonical Allele Identifier: CA349462765
Community Standard Title: NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545895G>A , CM000664.2:g.178545895G>A GRCh38
NC_000002.11:g.179410622G>A , CM000664.1:g.179410622G>A GRCh37
NC_000002.10:g.179118868G>A NCBI36
NG_011618.3:g.289908C>T , LRG_391:g.289908C>T
NG_051363.1:g.28069G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.95341C>T (TTN) MANE Select NP_001254479.2:p.Arg31781Ter
ENST00000589042.5:c.95341C>T (TTN) MANE Select ENSP00000467141.1:p.Arg31781Ter
NM_001256850.1:c.90418C>T (TTN) NP_001243779.1:p.Arg30140Ter
NM_003319.4:c.68146C>T (TTN) NP_003310.4:p.Arg22716Ter
NM_133378.4:c.87637C>T (TTN) NP_596869.4:p.Arg29213Ter
NM_133432.3:c.68521C>T (TTN) NP_597676.3:p.Arg22841Ter
NM_133437.4:c.68722C>T (TTN) NP_597681.4:p.Arg22908Ter
NR_038271.1:n.446+22259G>A (TTN-AS1)
NR_038272.1:n.2043+3534G>A (TTN-AS1)
ENST00000342175.10:c.68722C>T (TTN) ENSP00000340554.6:p.Arg22908Ter
ENST00000342175.11:c.68722C>T (TTN) ENSP00000340554.6:p.Arg22908Ter
ENST00000342992.10:c.87637C>T (TTN) ENSP00000343764.6:p.Arg29213Ter
ENST00000342992.11:c.87637C>T (TTN) ENSP00000343764.6:p.Arg29213Ter
ENST00000359218.10:c.68521C>T (TTN) ENSP00000352154.5:p.Arg22841Ter
ENST00000359218.9:c.68521C>T (TTN) ENSP00000352154.5:p.Arg22841Ter
ENST00000460472.6:c.68146C>T (TTN) ENSP00000434586.1:p.Arg22716Ter
ENST00000591111.5:c.90418C>T (TTN) ENSP00000465570.1:p.Arg30140Ter
ENST00000615779.4:c.90418C>T (TTN) ENSP00000483597.1:p.Arg30140Ter
XM_011511729.1:c.94438C>T (TTN) XP_011510031.1:p.Arg31480Ter
XM_011511730.1:c.68332C>T (TTN) XP_011510032.1:p.Arg22778Ter
XM_011511731.1:c.68191C>T (TTN) XP_011510033.1:p.Arg22731Ter
XM_017004819.1:c.94234C>T (TTN) XP_016860308.1:p.Arg31412Ter
XM_017004820.1:c.89632C>T (TTN) XP_016860309.1:p.Arg29878Ter
XM_017004821.1:c.89629C>T (TTN) XP_016860310.1:p.Arg29877Ter
XM_017004822.1:c.86671C>T (TTN) XP_016860311.1:p.Arg28891Ter
XM_017004823.1:c.68287C>T (TTN) XP_016860312.1:p.Arg22763Ter
XM_024453094.1:c.89782C>T (TTN) XP_024308862.1:p.Arg29928Ter
XM_024453095.1:c.89779C>T (TTN) XP_024308863.1:p.Arg29927Ter
XM_024453096.1:c.89212C>T (TTN) XP_024308864.1:p.Arg29738Ter
XM_024453097.1:c.86554C>T (TTN) XP_024308865.1:p.Arg28852Ter
XM_024453098.1:c.86473C>T (TTN) XP_024308866.1:p.Arg28825Ter
XM_024453099.1:c.68236C>T (TTN) XP_024308867.1:p.Arg22746Ter
XM_024453100.1:c.58090C>T (TTN) XP_024308868.1:p.Arg19364Ter