Canonical Allele Identifier: CA349538603
Community Standard Title: NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601337G>A , CM000664.2:g.178601337G>A GRCh38
NC_000002.11:g.179466064G>A , CM000664.1:g.179466064G>A GRCh37
NC_000002.10:g.179174309G>A NCBI36
NG_011618.3:g.234466C>T , LRG_391:g.234466C>T
NG_051363.1:g.83511G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.55660C>T (TTN) MANE Select NP_001254479.2:p.Arg18554Ter
ENST00000589042.5:c.55660C>T (TTN) MANE Select ENSP00000467141.1:p.Arg18554Ter
NM_001256850.1:c.50737C>T (TTN) NP_001243779.1:p.Arg16913Ter
NM_003319.4:c.28465C>T (TTN) NP_003310.4:p.Arg9489Ter
NM_133378.4:c.47956C>T (TTN) NP_596869.4:p.Arg15986Ter
NM_133432.3:c.28840C>T (TTN) NP_597676.3:p.Arg9614Ter
NM_133437.4:c.29041C>T (TTN) NP_597681.4:p.Arg9681Ter
NR_038271.1:n.682+3656G>A (TTN-AS1)
NR_038272.1:n.3917+670G>A (TTN-AS1)
ENST00000342175.10:c.29041C>T (TTN) ENSP00000340554.6:p.Arg9681Ter
ENST00000342175.11:c.29041C>T (TTN) ENSP00000340554.6:p.Arg9681Ter
ENST00000342992.10:c.47956C>T (TTN) ENSP00000343764.6:p.Arg15986Ter
ENST00000342992.11:c.47956C>T (TTN) ENSP00000343764.6:p.Arg15986Ter
ENST00000359218.10:c.28840C>T (TTN) ENSP00000352154.5:p.Arg9614Ter
ENST00000359218.9:c.28840C>T (TTN) ENSP00000352154.5:p.Arg9614Ter
ENST00000460472.6:c.28465C>T (TTN) ENSP00000434586.1:p.Arg9489Ter
ENST00000591111.5:c.50737C>T (TTN) ENSP00000465570.1:p.Arg16913Ter
ENST00000615779.4:c.50737C>T (TTN) ENSP00000483597.1:p.Arg16913Ter
XM_011511729.1:c.54757C>T (TTN) XP_011510031.1:p.Arg18253Ter
XM_011511730.1:c.28651C>T (TTN) XP_011510032.1:p.Arg9551Ter
XM_011511731.1:c.28510C>T (TTN) XP_011510033.1:p.Arg9504Ter
XM_017004819.1:c.54553C>T (TTN) XP_016860308.1:p.Arg18185Ter
XM_017004820.1:c.49951C>T (TTN) XP_016860309.1:p.Arg16651Ter
XM_017004821.1:c.49948C>T (TTN) XP_016860310.1:p.Arg16650Ter
XM_017004822.1:c.46990C>T (TTN) XP_016860311.1:p.Arg15664Ter
XM_017004823.1:c.28606C>T (TTN) XP_016860312.1:p.Arg9536Ter
XM_024453094.1:c.50101C>T (TTN) XP_024308862.1:p.Arg16701Ter
XM_024453095.1:c.50098C>T (TTN) XP_024308863.1:p.Arg16700Ter
XM_024453096.1:c.49531C>T (TTN) XP_024308864.1:p.Arg16511Ter
XM_024453097.1:c.46873C>T (TTN) XP_024308865.1:p.Arg15625Ter
XM_024453098.1:c.46792C>T (TTN) XP_024308866.1:p.Arg15598Ter
XM_024453099.1:c.28555C>T (TTN) XP_024308867.1:p.Arg9519Ter
XM_024453100.1:c.18409C>T (TTN) XP_024308868.1:p.Arg6137Ter