Canonical Allele Identifier: CA1988673
Community Standard Title: NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560865G>A , CM000664.2:g.178560865G>A GRCh38
NC_000002.11:g.179425592G>A , CM000664.1:g.179425592G>A GRCh37
NC_000002.10:g.179133838G>A NCBI36
NG_011618.3:g.274938C>T , LRG_391:g.274938C>T
NG_051363.1:g.43039G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85267C>T (TTN) MANE Select NP_001254479.2:p.Arg28423Ter
ENST00000589042.5:c.85267C>T (TTN) MANE Select ENSP00000467141.1:p.Arg28423Ter
NM_001256850.1:c.80344C>T (TTN) NP_001243779.1:p.Arg26782Ter
NM_003319.4:c.58072C>T (TTN) NP_003310.4:p.Arg19358Ter
NM_133378.4:c.77563C>T (TTN) NP_596869.4:p.Arg25855Ter
NM_133432.3:c.58447C>T (TTN) NP_597676.3:p.Arg19483Ter
NM_133437.4:c.58648C>T (TTN) NP_597681.4:p.Arg19550Ter
NR_038271.1:n.447-10435G>A (TTN-AS1)
NR_038272.1:n.2043+18504G>A (TTN-AS1)
ENST00000342175.10:c.58648C>T (TTN) ENSP00000340554.6:p.Arg19550Ter
ENST00000342175.11:c.58648C>T (TTN) ENSP00000340554.6:p.Arg19550Ter
ENST00000342992.10:c.77563C>T (TTN) ENSP00000343764.6:p.Arg25855Ter
ENST00000342992.11:c.77563C>T (TTN) ENSP00000343764.6:p.Arg25855Ter
ENST00000359218.10:c.58447C>T (TTN) ENSP00000352154.5:p.Arg19483Ter
ENST00000359218.9:c.58447C>T (TTN) ENSP00000352154.5:p.Arg19483Ter
ENST00000460472.6:c.58072C>T (TTN) ENSP00000434586.1:p.Arg19358Ter
ENST00000591111.5:c.80344C>T (TTN) ENSP00000465570.1:p.Arg26782Ter
ENST00000615779.4:c.80344C>T (TTN) ENSP00000483597.1:p.Arg26782Ter
XM_011511729.1:c.84364C>T (TTN) XP_011510031.1:p.Arg28122Ter
XM_011511730.1:c.58258C>T (TTN) XP_011510032.1:p.Arg19420Ter
XM_011511731.1:c.58117C>T (TTN) XP_011510033.1:p.Arg19373Ter
XM_017004819.1:c.84160C>T (TTN) XP_016860308.1:p.Arg28054Ter
XM_017004820.1:c.79558C>T (TTN) XP_016860309.1:p.Arg26520Ter
XM_017004821.1:c.79555C>T (TTN) XP_016860310.1:p.Arg26519Ter
XM_017004822.1:c.76597C>T (TTN) XP_016860311.1:p.Arg25533Ter
XM_017004823.1:c.58213C>T (TTN) XP_016860312.1:p.Arg19405Ter
XM_024453094.1:c.79708C>T (TTN) XP_024308862.1:p.Arg26570Ter
XM_024453095.1:c.79705C>T (TTN) XP_024308863.1:p.Arg26569Ter
XM_024453096.1:c.79138C>T (TTN) XP_024308864.1:p.Arg26380Ter
XM_024453097.1:c.76480C>T (TTN) XP_024308865.1:p.Arg25494Ter
XM_024453098.1:c.76399C>T (TTN) XP_024308866.1:p.Arg25467Ter
XM_024453099.1:c.58162C>T (TTN) XP_024308867.1:p.Arg19388Ter
XM_024453100.1:c.48016C>T (TTN) XP_024308868.1:p.Arg16006Ter