Canonical Allele Identifier: CA1987342
Community Standard Title: NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548448G>A , CM000664.2:g.178548448G>A GRCh38
NC_000002.11:g.179413175G>A , CM000664.1:g.179413175G>A GRCh37
NC_000002.10:g.179121421G>A NCBI36
NG_011618.3:g.287355C>T , LRG_391:g.287355C>T
NG_051363.1:g.30622G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.93178C>T (TTN) MANE Select NP_001254479.2:p.Arg31060Cys
ENST00000589042.5:c.93178C>T (TTN) MANE Select ENSP00000467141.1:p.Arg31060Cys
NM_001256850.1:c.88255C>T (TTN) NP_001243779.1:p.Arg29419Cys
NM_003319.4:c.65983C>T (TTN) NP_003310.4:p.Arg21995Cys
NM_133378.4:c.85474C>T (TTN) NP_596869.4:p.Arg28492Cys
NM_133432.3:c.66358C>T (TTN) NP_597676.3:p.Arg22120Cys
NM_133437.4:c.66559C>T (TTN) NP_597681.4:p.Arg22187Cys
NR_038271.1:n.447-22852G>A (TTN-AS1)
NR_038272.1:n.2043+6087G>A (TTN-AS1)
ENST00000342175.10:c.66559C>T (TTN) ENSP00000340554.6:p.Arg22187Cys
ENST00000342175.11:c.66559C>T (TTN) ENSP00000340554.6:p.Arg22187Cys
ENST00000342992.10:c.85474C>T (TTN) ENSP00000343764.6:p.Arg28492Cys
ENST00000342992.11:c.85474C>T (TTN) ENSP00000343764.6:p.Arg28492Cys
ENST00000359218.10:c.66358C>T (TTN) ENSP00000352154.5:p.Arg22120Cys
ENST00000359218.9:c.66358C>T (TTN) ENSP00000352154.5:p.Arg22120Cys
ENST00000460472.6:c.65983C>T (TTN) ENSP00000434586.1:p.Arg21995Cys
ENST00000591111.5:c.88255C>T (TTN) ENSP00000465570.1:p.Arg29419Cys
ENST00000615779.4:c.88255C>T (TTN) ENSP00000483597.1:p.Arg29419Cys
XM_011511729.1:c.92275C>T (TTN) XP_011510031.1:p.Arg30759Cys
XM_011511730.1:c.66169C>T (TTN) XP_011510032.1:p.Arg22057Cys
XM_011511731.1:c.66028C>T (TTN) XP_011510033.1:p.Arg22010Cys
XM_017004819.1:c.92071C>T (TTN) XP_016860308.1:p.Arg30691Cys
XM_017004820.1:c.87469C>T (TTN) XP_016860309.1:p.Arg29157Cys
XM_017004821.1:c.87466C>T (TTN) XP_016860310.1:p.Arg29156Cys
XM_017004822.1:c.84508C>T (TTN) XP_016860311.1:p.Arg28170Cys
XM_017004823.1:c.66124C>T (TTN) XP_016860312.1:p.Arg22042Cys
XM_024453094.1:c.87619C>T (TTN) XP_024308862.1:p.Arg29207Cys
XM_024453095.1:c.87616C>T (TTN) XP_024308863.1:p.Arg29206Cys
XM_024453096.1:c.87049C>T (TTN) XP_024308864.1:p.Arg29017Cys
XM_024453097.1:c.84391C>T (TTN) XP_024308865.1:p.Arg28131Cys
XM_024453098.1:c.84310C>T (TTN) XP_024308866.1:p.Arg28104Cys
XM_024453099.1:c.66073C>T (TTN) XP_024308867.1:p.Arg22025Cys
XM_024453100.1:c.55927C>T (TTN) XP_024308868.1:p.Arg18643Cys