Canonical Allele Identifier: CA1988662
Community Standard Title: NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560816C>T , CM000664.2:g.178560816C>T GRCh38
NC_000002.11:g.179425543C>T , CM000664.1:g.179425543C>T GRCh37
NC_000002.10:g.179133789C>T NCBI36
NG_011618.3:g.274987G>A , LRG_391:g.274987G>A
NG_051363.1:g.42990C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85316G>A (TTN) MANE Select NP_001254479.2:p.Arg28439Gln
ENST00000589042.5:c.85316G>A (TTN) MANE Select ENSP00000467141.1:p.Arg28439Gln
NM_001256850.1:c.80393G>A (TTN) NP_001243779.1:p.Arg26798Gln
NM_003319.4:c.58121G>A (TTN) NP_003310.4:p.Arg19374Gln
NM_133378.4:c.77612G>A (TTN) NP_596869.4:p.Arg25871Gln
NM_133432.3:c.58496G>A (TTN) NP_597676.3:p.Arg19499Gln
NM_133437.4:c.58697G>A (TTN) NP_597681.4:p.Arg19566Gln
NR_038271.1:n.447-10484C>T (TTN-AS1)
NR_038272.1:n.2043+18455C>T (TTN-AS1)
ENST00000342175.10:c.58697G>A (TTN) ENSP00000340554.6:p.Arg19566Gln
ENST00000342175.11:c.58697G>A (TTN) ENSP00000340554.6:p.Arg19566Gln
ENST00000342992.10:c.77612G>A (TTN) ENSP00000343764.6:p.Arg25871Gln
ENST00000342992.11:c.77612G>A (TTN) ENSP00000343764.6:p.Arg25871Gln
ENST00000359218.10:c.58496G>A (TTN) ENSP00000352154.5:p.Arg19499Gln
ENST00000359218.9:c.58496G>A (TTN) ENSP00000352154.5:p.Arg19499Gln
ENST00000460472.6:c.58121G>A (TTN) ENSP00000434586.1:p.Arg19374Gln
ENST00000591111.5:c.80393G>A (TTN) ENSP00000465570.1:p.Arg26798Gln
ENST00000615779.4:c.80393G>A (TTN) ENSP00000483597.1:p.Arg26798Gln
XM_011511729.1:c.84413G>A (TTN) XP_011510031.1:p.Arg28138Gln
XM_011511730.1:c.58307G>A (TTN) XP_011510032.1:p.Arg19436Gln
XM_011511731.1:c.58166G>A (TTN) XP_011510033.1:p.Arg19389Gln
XM_017004819.1:c.84209G>A (TTN) XP_016860308.1:p.Arg28070Gln
XM_017004820.1:c.79607G>A (TTN) XP_016860309.1:p.Arg26536Gln
XM_017004821.1:c.79604G>A (TTN) XP_016860310.1:p.Arg26535Gln
XM_017004822.1:c.76646G>A (TTN) XP_016860311.1:p.Arg25549Gln
XM_017004823.1:c.58262G>A (TTN) XP_016860312.1:p.Arg19421Gln
XM_024453094.1:c.79757G>A (TTN) XP_024308862.1:p.Arg26586Gln
XM_024453095.1:c.79754G>A (TTN) XP_024308863.1:p.Arg26585Gln
XM_024453096.1:c.79187G>A (TTN) XP_024308864.1:p.Arg26396Gln
XM_024453097.1:c.76529G>A (TTN) XP_024308865.1:p.Arg25510Gln
XM_024453098.1:c.76448G>A (TTN) XP_024308866.1:p.Arg25483Gln
XM_024453099.1:c.58211G>A (TTN) XP_024308867.1:p.Arg19404Gln
XM_024453100.1:c.48065G>A (TTN) XP_024308868.1:p.Arg16022Gln