Canonical Allele Identifier: CA1988748
Community Standard Title: NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561450G>A , CM000664.2:g.178561450G>A GRCh38
NC_000002.11:g.179426177G>A , CM000664.1:g.179426177G>A GRCh37
NC_000002.10:g.179134423G>A NCBI36
NG_011618.3:g.274353C>T , LRG_391:g.274353C>T
NG_051363.1:g.43624G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.84682C>T (TTN) MANE Select NP_001254479.2:p.Arg28228Cys
ENST00000589042.5:c.84682C>T (TTN) MANE Select ENSP00000467141.1:p.Arg28228Cys
NM_001256850.1:c.79759C>T (TTN) NP_001243779.1:p.Arg26587Cys
NM_003319.4:c.57487C>T (TTN) NP_003310.4:p.Arg19163Cys
NM_133378.4:c.76978C>T (TTN) NP_596869.4:p.Arg25660Cys
NM_133432.3:c.57862C>T (TTN) NP_597676.3:p.Arg19288Cys
NM_133437.4:c.58063C>T (TTN) NP_597681.4:p.Arg19355Cys
NR_038271.1:n.447-9850G>A (TTN-AS1)
NR_038272.1:n.2043+19089G>A (TTN-AS1)
ENST00000342175.10:c.58063C>T (TTN) ENSP00000340554.6:p.Arg19355Cys
ENST00000342175.11:c.58063C>T (TTN) ENSP00000340554.6:p.Arg19355Cys
ENST00000342992.10:c.76978C>T (TTN) ENSP00000343764.6:p.Arg25660Cys
ENST00000342992.11:c.76978C>T (TTN) ENSP00000343764.6:p.Arg25660Cys
ENST00000359218.10:c.57862C>T (TTN) ENSP00000352154.5:p.Arg19288Cys
ENST00000359218.9:c.57862C>T (TTN) ENSP00000352154.5:p.Arg19288Cys
ENST00000460472.6:c.57487C>T (TTN) ENSP00000434586.1:p.Arg19163Cys
ENST00000591111.5:c.79759C>T (TTN) ENSP00000465570.1:p.Arg26587Cys
ENST00000615779.4:c.79759C>T (TTN) ENSP00000483597.1:p.Arg26587Cys
XM_011511729.1:c.83779C>T (TTN) XP_011510031.1:p.Arg27927Cys
XM_011511730.1:c.57673C>T (TTN) XP_011510032.1:p.Arg19225Cys
XM_011511731.1:c.57532C>T (TTN) XP_011510033.1:p.Arg19178Cys
XM_017004819.1:c.83575C>T (TTN) XP_016860308.1:p.Arg27859Cys
XM_017004820.1:c.78973C>T (TTN) XP_016860309.1:p.Arg26325Cys
XM_017004821.1:c.78970C>T (TTN) XP_016860310.1:p.Arg26324Cys
XM_017004822.1:c.76012C>T (TTN) XP_016860311.1:p.Arg25338Cys
XM_017004823.1:c.57628C>T (TTN) XP_016860312.1:p.Arg19210Cys
XM_024453094.1:c.79123C>T (TTN) XP_024308862.1:p.Arg26375Cys
XM_024453095.1:c.79120C>T (TTN) XP_024308863.1:p.Arg26374Cys
XM_024453096.1:c.78553C>T (TTN) XP_024308864.1:p.Arg26185Cys
XM_024453097.1:c.75895C>T (TTN) XP_024308865.1:p.Arg25299Cys
XM_024453098.1:c.75814C>T (TTN) XP_024308866.1:p.Arg25272Cys
XM_024453099.1:c.57577C>T (TTN) XP_024308867.1:p.Arg19193Cys
XM_024453100.1:c.47431C>T (TTN) XP_024308868.1:p.Arg15811Cys