Canonical Allele Identifier: CA349594513
Community Standard Title: NM_001267550.2(TTN):c.79639C>T (p.Arg26547Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566493G>A , CM000664.2:g.178566493G>A GRCh38
NC_000002.11:g.179431220G>A , CM000664.1:g.179431220G>A GRCh37
NC_000002.10:g.179139466G>A NCBI36
NG_011618.3:g.269310C>T , LRG_391:g.269310C>T
NG_051363.1:g.48667G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79639C>T (TTN) MANE Select NP_001254479.2:p.Arg26547Ter
ENST00000589042.5:c.79639C>T (TTN) MANE Select ENSP00000467141.1:p.Arg26547Ter
NM_001256850.1:c.74716C>T (TTN) NP_001243779.1:p.Arg24906Ter
NM_003319.4:c.52444C>T (TTN) NP_003310.4:p.Arg17482Ter
NM_133378.4:c.71935C>T (TTN) NP_596869.4:p.Arg23979Ter
NM_133432.3:c.52819C>T (TTN) NP_597676.3:p.Arg17607Ter
NM_133437.4:c.53020C>T (TTN) NP_597681.4:p.Arg17674Ter
NR_038271.1:n.447-4807G>A (TTN-AS1)
NR_038272.1:n.2044-16079G>A (TTN-AS1)
ENST00000342175.10:c.53020C>T (TTN) ENSP00000340554.6:p.Arg17674Ter
ENST00000342175.11:c.53020C>T (TTN) ENSP00000340554.6:p.Arg17674Ter
ENST00000342992.10:c.71935C>T (TTN) ENSP00000343764.6:p.Arg23979Ter
ENST00000342992.11:c.71935C>T (TTN) ENSP00000343764.6:p.Arg23979Ter
ENST00000359218.10:c.52819C>T (TTN) ENSP00000352154.5:p.Arg17607Ter
ENST00000359218.9:c.52819C>T (TTN) ENSP00000352154.5:p.Arg17607Ter
ENST00000460472.6:c.52444C>T (TTN) ENSP00000434586.1:p.Arg17482Ter
ENST00000591111.5:c.74716C>T (TTN) ENSP00000465570.1:p.Arg24906Ter
ENST00000615779.4:c.74716C>T (TTN) ENSP00000483597.1:p.Arg24906Ter
XM_011511729.1:c.78736C>T (TTN) XP_011510031.1:p.Arg26246Ter
XM_011511730.1:c.52630C>T (TTN) XP_011510032.1:p.Arg17544Ter
XM_011511731.1:c.52489C>T (TTN) XP_011510033.1:p.Arg17497Ter
XM_017004819.1:c.78532C>T (TTN) XP_016860308.1:p.Arg26178Ter
XM_017004820.1:c.73930C>T (TTN) XP_016860309.1:p.Arg24644Ter
XM_017004821.1:c.73927C>T (TTN) XP_016860310.1:p.Arg24643Ter
XM_017004822.1:c.70969C>T (TTN) XP_016860311.1:p.Arg23657Ter
XM_017004823.1:c.52585C>T (TTN) XP_016860312.1:p.Arg17529Ter
XM_024453094.1:c.74080C>T (TTN) XP_024308862.1:p.Arg24694Ter
XM_024453095.1:c.74077C>T (TTN) XP_024308863.1:p.Arg24693Ter
XM_024453096.1:c.73510C>T (TTN) XP_024308864.1:p.Arg24504Ter
XM_024453097.1:c.70852C>T (TTN) XP_024308865.1:p.Arg23618Ter
XM_024453098.1:c.70771C>T (TTN) XP_024308866.1:p.Arg23591Ter
XM_024453099.1:c.52534C>T (TTN) XP_024308867.1:p.Arg17512Ter
XM_024453100.1:c.42388C>T (TTN) XP_024308868.1:p.Arg14130Ter