Canonical Allele Identifier: CA349555434
Community Standard Title: NM_001267550.2(TTN):c.85150C>T (p.Arg28384Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560982G>A , CM000664.2:g.178560982G>A GRCh38
NC_000002.11:g.179425709G>A , CM000664.1:g.179425709G>A GRCh37
NC_000002.10:g.179133955G>A NCBI36
NG_011618.3:g.274821C>T , LRG_391:g.274821C>T
NG_051363.1:g.43156G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85150C>T (TTN) MANE Select NP_001254479.2:p.Arg28384Ter
ENST00000589042.5:c.85150C>T (TTN) MANE Select ENSP00000467141.1:p.Arg28384Ter
NM_001256850.1:c.80227C>T (TTN) NP_001243779.1:p.Arg26743Ter
NM_003319.4:c.57955C>T (TTN) NP_003310.4:p.Arg19319Ter
NM_133378.4:c.77446C>T (TTN) NP_596869.4:p.Arg25816Ter
NM_133432.3:c.58330C>T (TTN) NP_597676.3:p.Arg19444Ter
NM_133437.4:c.58531C>T (TTN) NP_597681.4:p.Arg19511Ter
NR_038271.1:n.447-10318G>A (TTN-AS1)
NR_038272.1:n.2043+18621G>A (TTN-AS1)
ENST00000342175.10:c.58531C>T (TTN) ENSP00000340554.6:p.Arg19511Ter
ENST00000342175.11:c.58531C>T (TTN) ENSP00000340554.6:p.Arg19511Ter
ENST00000342992.10:c.77446C>T (TTN) ENSP00000343764.6:p.Arg25816Ter
ENST00000342992.11:c.77446C>T (TTN) ENSP00000343764.6:p.Arg25816Ter
ENST00000359218.10:c.58330C>T (TTN) ENSP00000352154.5:p.Arg19444Ter
ENST00000359218.9:c.58330C>T (TTN) ENSP00000352154.5:p.Arg19444Ter
ENST00000460472.6:c.57955C>T (TTN) ENSP00000434586.1:p.Arg19319Ter
ENST00000591111.5:c.80227C>T (TTN) ENSP00000465570.1:p.Arg26743Ter
ENST00000615779.4:c.80227C>T (TTN) ENSP00000483597.1:p.Arg26743Ter
XM_011511729.1:c.84247C>T (TTN) XP_011510031.1:p.Arg28083Ter
XM_011511730.1:c.58141C>T (TTN) XP_011510032.1:p.Arg19381Ter
XM_011511731.1:c.58000C>T (TTN) XP_011510033.1:p.Arg19334Ter
XM_017004819.1:c.84043C>T (TTN) XP_016860308.1:p.Arg28015Ter
XM_017004820.1:c.79441C>T (TTN) XP_016860309.1:p.Arg26481Ter
XM_017004821.1:c.79438C>T (TTN) XP_016860310.1:p.Arg26480Ter
XM_017004822.1:c.76480C>T (TTN) XP_016860311.1:p.Arg25494Ter
XM_017004823.1:c.58096C>T (TTN) XP_016860312.1:p.Arg19366Ter
XM_024453094.1:c.79591C>T (TTN) XP_024308862.1:p.Arg26531Ter
XM_024453095.1:c.79588C>T (TTN) XP_024308863.1:p.Arg26530Ter
XM_024453096.1:c.79021C>T (TTN) XP_024308864.1:p.Arg26341Ter
XM_024453097.1:c.76363C>T (TTN) XP_024308865.1:p.Arg25455Ter
XM_024453098.1:c.76282C>T (TTN) XP_024308866.1:p.Arg25428Ter
XM_024453099.1:c.58045C>T (TTN) XP_024308867.1:p.Arg19349Ter
XM_024453100.1:c.47899C>T (TTN) XP_024308868.1:p.Arg15967Ter