Canonical Allele Identifier: CA1992428
Community Standard Title: NM_001267550.2(TTN):c.60928C>T (p.Arg20310Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590797G>A , CM000664.2:g.178590797G>A GRCh38
NC_000002.11:g.179455524G>A , CM000664.1:g.179455524G>A GRCh37
NC_000002.10:g.179163770G>A NCBI36
NG_011618.3:g.245006C>T , LRG_391:g.245006C>T
NG_051363.1:g.72971G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.60928C>T (TTN) MANE Select NP_001254479.2:p.Arg20310Cys
ENST00000589042.5:c.60928C>T (TTN) MANE Select ENSP00000467141.1:p.Arg20310Cys
NM_001256850.1:c.56005C>T (TTN) NP_001243779.1:p.Arg18669Cys
NM_003319.4:c.33733C>T (TTN) NP_003310.4:p.Arg11245Cys
NM_133378.4:c.53224C>T (TTN) NP_596869.4:p.Arg17742Cys
NM_133432.3:c.34108C>T (TTN) NP_597676.3:p.Arg11370Cys
NM_133437.4:c.34309C>T (TTN) NP_597681.4:p.Arg11437Cys
NR_038271.1:n.597-6799G>A (TTN-AS1)
NR_038272.1:n.3189-342G>A (TTN-AS1)
ENST00000342175.10:c.34309C>T (TTN) ENSP00000340554.6:p.Arg11437Cys
ENST00000342175.11:c.34309C>T (TTN) ENSP00000340554.6:p.Arg11437Cys
ENST00000342992.10:c.53224C>T (TTN) ENSP00000343764.6:p.Arg17742Cys
ENST00000342992.11:c.53224C>T (TTN) ENSP00000343764.6:p.Arg17742Cys
ENST00000359218.10:c.34108C>T (TTN) ENSP00000352154.5:p.Arg11370Cys
ENST00000359218.9:c.34108C>T (TTN) ENSP00000352154.5:p.Arg11370Cys
ENST00000460472.6:c.33733C>T (TTN) ENSP00000434586.1:p.Arg11245Cys
ENST00000591111.5:c.56005C>T (TTN) ENSP00000465570.1:p.Arg18669Cys
ENST00000615779.4:c.56005C>T (TTN) ENSP00000483597.1:p.Arg18669Cys
XM_011511729.1:c.60025C>T (TTN) XP_011510031.1:p.Arg20009Cys
XM_011511730.1:c.33919C>T (TTN) XP_011510032.1:p.Arg11307Cys
XM_011511731.1:c.33778C>T (TTN) XP_011510033.1:p.Arg11260Cys
XM_017004819.1:c.59821C>T (TTN) XP_016860308.1:p.Arg19941Cys
XM_017004820.1:c.55219C>T (TTN) XP_016860309.1:p.Arg18407Cys
XM_017004821.1:c.55216C>T (TTN) XP_016860310.1:p.Arg18406Cys
XM_017004822.1:c.52258C>T (TTN) XP_016860311.1:p.Arg17420Cys
XM_017004823.1:c.33874C>T (TTN) XP_016860312.1:p.Arg11292Cys
XM_024453094.1:c.55369C>T (TTN) XP_024308862.1:p.Arg18457Cys
XM_024453095.1:c.55366C>T (TTN) XP_024308863.1:p.Arg18456Cys
XM_024453096.1:c.54799C>T (TTN) XP_024308864.1:p.Arg18267Cys
XM_024453097.1:c.52141C>T (TTN) XP_024308865.1:p.Arg17381Cys
XM_024453098.1:c.52060C>T (TTN) XP_024308866.1:p.Arg17354Cys
XM_024453099.1:c.33823C>T (TTN) XP_024308867.1:p.Arg11275Cys
XM_024453100.1:c.23677C>T (TTN) XP_024308868.1:p.Arg7893Cys