Canonical Allele Identifier: CA349430611
Community Standard Title: NM_001267550.2(TTN):c.99256A>T (p.Arg33086Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178538573T>A , CM000664.2:g.178538573T>A GRCh38
NC_000002.11:g.179403300T>A , CM000664.1:g.179403300T>A GRCh37
NC_000002.10:g.179111546T>A NCBI36
NG_011618.3:g.297230A>T , LRG_391:g.297230A>T
NG_051363.1:g.20747T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99256A>T (TTN) MANE Select NP_001254479.2:p.Arg33086Ter
ENST00000589042.5:c.99256A>T (TTN) MANE Select ENSP00000467141.1:p.Arg33086Ter
NM_001256850.1:c.94333A>T (TTN) NP_001243779.1:p.Arg31445Ter
NM_003319.4:c.72061A>T (TTN) NP_003310.4:p.Arg24021Ter
NM_133378.4:c.91552A>T (TTN) NP_596869.4:p.Arg30518Ter
NM_133432.3:c.72436A>T (TTN) NP_597676.3:p.Arg24146Ter
NM_133437.4:c.72637A>T (TTN) NP_597681.4:p.Arg24213Ter
NR_038271.1:n.446+14937T>A (TTN-AS1)
NR_038272.1:n.648-125T>A (TTN-AS1)
ENST00000342175.10:c.72637A>T (TTN) ENSP00000340554.6:p.Arg24213Ter
ENST00000342175.11:c.72637A>T (TTN) ENSP00000340554.6:p.Arg24213Ter
ENST00000342992.10:c.91552A>T (TTN) ENSP00000343764.6:p.Arg30518Ter
ENST00000342992.11:c.91552A>T (TTN) ENSP00000343764.6:p.Arg30518Ter
ENST00000359218.10:c.72436A>T (TTN) ENSP00000352154.5:p.Arg24146Ter
ENST00000359218.9:c.72436A>T (TTN) ENSP00000352154.5:p.Arg24146Ter
ENST00000460472.6:c.72061A>T (TTN) ENSP00000434586.1:p.Arg24021Ter
ENST00000591111.5:c.94333A>T (TTN) ENSP00000465570.1:p.Arg31445Ter
ENST00000615779.4:c.94333A>T (TTN) ENSP00000483597.1:p.Arg31445Ter
XM_011511729.1:c.98353A>T (TTN) XP_011510031.1:p.Arg32785Ter
XM_011511730.1:c.72247A>T (TTN) XP_011510032.1:p.Arg24083Ter
XM_011511731.1:c.72106A>T (TTN) XP_011510033.1:p.Arg24036Ter
XM_017004819.1:c.98149A>T (TTN) XP_016860308.1:p.Arg32717Ter
XM_017004820.1:c.93547A>T (TTN) XP_016860309.1:p.Arg31183Ter
XM_017004821.1:c.93544A>T (TTN) XP_016860310.1:p.Arg31182Ter
XM_017004822.1:c.90586A>T (TTN) XP_016860311.1:p.Arg30196Ter
XM_017004823.1:c.72202A>T (TTN) XP_016860312.1:p.Arg24068Ter
XM_024453094.1:c.93697A>T (TTN) XP_024308862.1:p.Arg31233Ter
XM_024453095.1:c.93694A>T (TTN) XP_024308863.1:p.Arg31232Ter
XM_024453096.1:c.93127A>T (TTN) XP_024308864.1:p.Arg31043Ter
XM_024453097.1:c.90469A>T (TTN) XP_024308865.1:p.Arg30157Ter
XM_024453098.1:c.90388A>T (TTN) XP_024308866.1:p.Arg30130Ter
XM_024453099.1:c.72151A>T (TTN) XP_024308867.1:p.Arg24051Ter
XM_024453100.1:c.62005A>T (TTN) XP_024308868.1:p.Arg20669Ter