Canonical Allele Identifier: CA1993228
Community Standard Title: NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178599221G>A , CM000664.2:g.178599221G>A GRCh38
NC_000002.11:g.179463948G>A , CM000664.1:g.179463948G>A GRCh37
NC_000002.10:g.179172193G>A NCBI36
NG_011618.3:g.236582C>T , LRG_391:g.236582C>T
NG_051363.1:g.81395G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56572C>T (TTN) MANE Select NP_001254479.2:p.Arg18858Ter
ENST00000589042.5:c.56572C>T (TTN) MANE Select ENSP00000467141.1:p.Arg18858Ter
NM_001256850.1:c.51649C>T (TTN) NP_001243779.1:p.Arg17217Ter
NM_003319.4:c.29377C>T (TTN) NP_003310.4:p.Arg9793Ter
NM_133378.4:c.48868C>T (TTN) NP_596869.4:p.Arg16290Ter
NM_133432.3:c.29752C>T (TTN) NP_597676.3:p.Arg9918Ter
NM_133437.4:c.29953C>T (TTN) NP_597681.4:p.Arg9985Ter
NR_038271.1:n.682+1540G>A (TTN-AS1)
NR_038272.1:n.3569-373G>A (TTN-AS1)
ENST00000342175.10:c.29953C>T (TTN) ENSP00000340554.6:p.Arg9985Ter
ENST00000342175.11:c.29953C>T (TTN) ENSP00000340554.6:p.Arg9985Ter
ENST00000342992.10:c.48868C>T (TTN) ENSP00000343764.6:p.Arg16290Ter
ENST00000342992.11:c.48868C>T (TTN) ENSP00000343764.6:p.Arg16290Ter
ENST00000359218.10:c.29752C>T (TTN) ENSP00000352154.5:p.Arg9918Ter
ENST00000359218.9:c.29752C>T (TTN) ENSP00000352154.5:p.Arg9918Ter
ENST00000460472.6:c.29377C>T (TTN) ENSP00000434586.1:p.Arg9793Ter
ENST00000591111.5:c.51649C>T (TTN) ENSP00000465570.1:p.Arg17217Ter
ENST00000615779.4:c.51649C>T (TTN) ENSP00000483597.1:p.Arg17217Ter
XM_011511729.1:c.55669C>T (TTN) XP_011510031.1:p.Arg18557Ter
XM_011511730.1:c.29563C>T (TTN) XP_011510032.1:p.Arg9855Ter
XM_011511731.1:c.29422C>T (TTN) XP_011510033.1:p.Arg9808Ter
XM_017004819.1:c.55465C>T (TTN) XP_016860308.1:p.Arg18489Ter
XM_017004820.1:c.50863C>T (TTN) XP_016860309.1:p.Arg16955Ter
XM_017004821.1:c.50860C>T (TTN) XP_016860310.1:p.Arg16954Ter
XM_017004822.1:c.47902C>T (TTN) XP_016860311.1:p.Arg15968Ter
XM_017004823.1:c.29518C>T (TTN) XP_016860312.1:p.Arg9840Ter
XM_024453094.1:c.51013C>T (TTN) XP_024308862.1:p.Arg17005Ter
XM_024453095.1:c.51010C>T (TTN) XP_024308863.1:p.Arg17004Ter
XM_024453096.1:c.50443C>T (TTN) XP_024308864.1:p.Arg16815Ter
XM_024453097.1:c.47785C>T (TTN) XP_024308865.1:p.Arg15929Ter
XM_024453098.1:c.47704C>T (TTN) XP_024308866.1:p.Arg15902Ter
XM_024453099.1:c.29467C>T (TTN) XP_024308867.1:p.Arg9823Ter
XM_024453100.1:c.19321C>T (TTN) XP_024308868.1:p.Arg6441Ter