Canonical Allele Identifier: CA1989955
Community Standard Title: NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570045G>A , CM000664.2:g.178570045G>A GRCh38
NC_000002.11:g.179434772G>A , CM000664.1:g.179434772G>A GRCh37
NC_000002.10:g.179143018G>A NCBI36
NG_011618.3:g.265758C>T , LRG_391:g.265758C>T
NG_051363.1:g.52219G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.76087C>T (TTN) MANE Select NP_001254479.2:p.Arg25363Cys
ENST00000589042.5:c.76087C>T (TTN) MANE Select ENSP00000467141.1:p.Arg25363Cys
NM_001256850.1:c.71164C>T (TTN) NP_001243779.1:p.Arg23722Cys
NM_003319.4:c.48892C>T (TTN) NP_003310.4:p.Arg16298Cys
NM_133378.4:c.68383C>T (TTN) NP_596869.4:p.Arg22795Cys
NM_133432.3:c.49267C>T (TTN) NP_597676.3:p.Arg16423Cys
NM_133437.4:c.49468C>T (TTN) NP_597681.4:p.Arg16490Cys
NR_038271.1:n.447-1255G>A (TTN-AS1)
NR_038272.1:n.2044-12527G>A (TTN-AS1)
ENST00000342175.10:c.49468C>T (TTN) ENSP00000340554.6:p.Arg16490Cys
ENST00000342175.11:c.49468C>T (TTN) ENSP00000340554.6:p.Arg16490Cys
ENST00000342992.10:c.68383C>T (TTN) ENSP00000343764.6:p.Arg22795Cys
ENST00000342992.11:c.68383C>T (TTN) ENSP00000343764.6:p.Arg22795Cys
ENST00000359218.10:c.49267C>T (TTN) ENSP00000352154.5:p.Arg16423Cys
ENST00000359218.9:c.49267C>T (TTN) ENSP00000352154.5:p.Arg16423Cys
ENST00000460472.6:c.48892C>T (TTN) ENSP00000434586.1:p.Arg16298Cys
ENST00000591111.5:c.71164C>T (TTN) ENSP00000465570.1:p.Arg23722Cys
ENST00000615779.4:c.71164C>T (TTN) ENSP00000483597.1:p.Arg23722Cys
XM_011511729.1:c.75184C>T (TTN) XP_011510031.1:p.Arg25062Cys
XM_011511730.1:c.49078C>T (TTN) XP_011510032.1:p.Arg16360Cys
XM_011511731.1:c.48937C>T (TTN) XP_011510033.1:p.Arg16313Cys
XM_017004819.1:c.74980C>T (TTN) XP_016860308.1:p.Arg24994Cys
XM_017004820.1:c.70378C>T (TTN) XP_016860309.1:p.Arg23460Cys
XM_017004821.1:c.70375C>T (TTN) XP_016860310.1:p.Arg23459Cys
XM_017004822.1:c.67417C>T (TTN) XP_016860311.1:p.Arg22473Cys
XM_017004823.1:c.49033C>T (TTN) XP_016860312.1:p.Arg16345Cys
XM_024453094.1:c.70528C>T (TTN) XP_024308862.1:p.Arg23510Cys
XM_024453095.1:c.70525C>T (TTN) XP_024308863.1:p.Arg23509Cys
XM_024453096.1:c.69958C>T (TTN) XP_024308864.1:p.Arg23320Cys
XM_024453097.1:c.67300C>T (TTN) XP_024308865.1:p.Arg22434Cys
XM_024453098.1:c.67219C>T (TTN) XP_024308866.1:p.Arg22407Cys
XM_024453099.1:c.48982C>T (TTN) XP_024308867.1:p.Arg16328Cys
XM_024453100.1:c.38836C>T (TTN) XP_024308868.1:p.Arg12946Cys