Canonical Allele Identifier: CA349542075
Community Standard Title: NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601739G>A , CM000664.2:g.178601739G>A GRCh38
NC_000002.11:g.179466466G>A , CM000664.1:g.179466466G>A GRCh37
NC_000002.10:g.179174711G>A NCBI36
NG_011618.3:g.234064C>T , LRG_391:g.234064C>T
NG_051363.1:g.83913G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.55351C>T (TTN) MANE Select NP_001254479.2:p.Arg18451Ter
ENST00000589042.5:c.55351C>T (TTN) MANE Select ENSP00000467141.1:p.Arg18451Ter
NM_001256850.1:c.50428C>T (TTN) NP_001243779.1:p.Arg16810Ter
NM_003319.4:c.28156C>T (TTN) NP_003310.4:p.Arg9386Ter
NM_133378.4:c.47647C>T (TTN) NP_596869.4:p.Arg15883Ter
NM_133432.3:c.28531C>T (TTN) NP_597676.3:p.Arg9511Ter
NM_133437.4:c.28732C>T (TTN) NP_597681.4:p.Arg9578Ter
NR_038271.1:n.682+4058G>A (TTN-AS1)
NR_038272.1:n.3917+1072G>A (TTN-AS1)
ENST00000342175.10:c.28732C>T (TTN) ENSP00000340554.6:p.Arg9578Ter
ENST00000342175.11:c.28732C>T (TTN) ENSP00000340554.6:p.Arg9578Ter
ENST00000342992.10:c.47647C>T (TTN) ENSP00000343764.6:p.Arg15883Ter
ENST00000342992.11:c.47647C>T (TTN) ENSP00000343764.6:p.Arg15883Ter
ENST00000359218.10:c.28531C>T (TTN) ENSP00000352154.5:p.Arg9511Ter
ENST00000359218.9:c.28531C>T (TTN) ENSP00000352154.5:p.Arg9511Ter
ENST00000460472.6:c.28156C>T (TTN) ENSP00000434586.1:p.Arg9386Ter
ENST00000591111.5:c.50428C>T (TTN) ENSP00000465570.1:p.Arg16810Ter
ENST00000615779.4:c.50428C>T (TTN) ENSP00000483597.1:p.Arg16810Ter
XM_011511729.1:c.54448C>T (TTN) XP_011510031.1:p.Arg18150Ter
XM_011511730.1:c.28342C>T (TTN) XP_011510032.1:p.Arg9448Ter
XM_011511731.1:c.28201C>T (TTN) XP_011510033.1:p.Arg9401Ter
XM_017004819.1:c.54244C>T (TTN) XP_016860308.1:p.Arg18082Ter
XM_017004820.1:c.49642C>T (TTN) XP_016860309.1:p.Arg16548Ter
XM_017004821.1:c.49639C>T (TTN) XP_016860310.1:p.Arg16547Ter
XM_017004822.1:c.46681C>T (TTN) XP_016860311.1:p.Arg15561Ter
XM_017004823.1:c.28297C>T (TTN) XP_016860312.1:p.Arg9433Ter
XM_024453094.1:c.49792C>T (TTN) XP_024308862.1:p.Arg16598Ter
XM_024453095.1:c.49789C>T (TTN) XP_024308863.1:p.Arg16597Ter
XM_024453096.1:c.49222C>T (TTN) XP_024308864.1:p.Arg16408Ter
XM_024453097.1:c.46564C>T (TTN) XP_024308865.1:p.Arg15522Ter
XM_024453098.1:c.46483C>T (TTN) XP_024308866.1:p.Arg15495Ter
XM_024453099.1:c.28246C>T (TTN) XP_024308867.1:p.Arg9416Ter
XM_024453100.1:c.18100C>T (TTN) XP_024308868.1:p.Arg6034Ter