Canonical Allele Identifier: CA1989613
Community Standard Title: NM_001267550.2(TTN):c.78382C>T (p.Arg26128Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567750G>A , CM000664.2:g.178567750G>A GRCh38
NC_000002.11:g.179432477G>A , CM000664.1:g.179432477G>A GRCh37
NC_000002.10:g.179140723G>A NCBI36
NG_011618.3:g.268053C>T , LRG_391:g.268053C>T
NG_051363.1:g.49924G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.78382C>T (TTN) MANE Select NP_001254479.2:p.Arg26128Cys
ENST00000589042.5:c.78382C>T (TTN) MANE Select ENSP00000467141.1:p.Arg26128Cys
NM_001256850.1:c.73459C>T (TTN) NP_001243779.1:p.Arg24487Cys
NM_003319.4:c.51187C>T (TTN) NP_003310.4:p.Arg17063Cys
NM_133378.4:c.70678C>T (TTN) NP_596869.4:p.Arg23560Cys
NM_133432.3:c.51562C>T (TTN) NP_597676.3:p.Arg17188Cys
NM_133437.4:c.51763C>T (TTN) NP_597681.4:p.Arg17255Cys
NR_038271.1:n.447-3550G>A (TTN-AS1)
NR_038272.1:n.2044-14822G>A (TTN-AS1)
ENST00000342175.10:c.51763C>T (TTN) ENSP00000340554.6:p.Arg17255Cys
ENST00000342175.11:c.51763C>T (TTN) ENSP00000340554.6:p.Arg17255Cys
ENST00000342992.10:c.70678C>T (TTN) ENSP00000343764.6:p.Arg23560Cys
ENST00000342992.11:c.70678C>T (TTN) ENSP00000343764.6:p.Arg23560Cys
ENST00000359218.10:c.51562C>T (TTN) ENSP00000352154.5:p.Arg17188Cys
ENST00000359218.9:c.51562C>T (TTN) ENSP00000352154.5:p.Arg17188Cys
ENST00000460472.6:c.51187C>T (TTN) ENSP00000434586.1:p.Arg17063Cys
ENST00000591111.5:c.73459C>T (TTN) ENSP00000465570.1:p.Arg24487Cys
ENST00000615779.4:c.73459C>T (TTN) ENSP00000483597.1:p.Arg24487Cys
XM_011511729.1:c.77479C>T (TTN) XP_011510031.1:p.Arg25827Cys
XM_011511730.1:c.51373C>T (TTN) XP_011510032.1:p.Arg17125Cys
XM_011511731.1:c.51232C>T (TTN) XP_011510033.1:p.Arg17078Cys
XM_017004819.1:c.77275C>T (TTN) XP_016860308.1:p.Arg25759Cys
XM_017004820.1:c.72673C>T (TTN) XP_016860309.1:p.Arg24225Cys
XM_017004821.1:c.72670C>T (TTN) XP_016860310.1:p.Arg24224Cys
XM_017004822.1:c.69712C>T (TTN) XP_016860311.1:p.Arg23238Cys
XM_017004823.1:c.51328C>T (TTN) XP_016860312.1:p.Arg17110Cys
XM_024453094.1:c.72823C>T (TTN) XP_024308862.1:p.Arg24275Cys
XM_024453095.1:c.72820C>T (TTN) XP_024308863.1:p.Arg24274Cys
XM_024453096.1:c.72253C>T (TTN) XP_024308864.1:p.Arg24085Cys
XM_024453097.1:c.69595C>T (TTN) XP_024308865.1:p.Arg23199Cys
XM_024453098.1:c.69514C>T (TTN) XP_024308866.1:p.Arg23172Cys
XM_024453099.1:c.51277C>T (TTN) XP_024308867.1:p.Arg17093Cys
XM_024453100.1:c.41131C>T (TTN) XP_024308868.1:p.Arg13711Cys