Canonical Allele Identifier: CA349412120
Community Standard Title: NM_001267550.2(TTN):c.104266A>T (p.Arg34756Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532349T>A , CM000664.2:g.178532349T>A GRCh38
NC_000002.11:g.179397076T>A , CM000664.1:g.179397076T>A GRCh37
NC_000002.10:g.179105322T>A NCBI36
NG_011618.3:g.303454A>T , LRG_391:g.303454A>T
NG_051363.1:g.14523T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104266A>T (TTN) MANE Select NP_001254479.2:p.Arg34756Ter
ENST00000589042.5:c.104266A>T (TTN) MANE Select ENSP00000467141.1:p.Arg34756Ter
NM_001256850.1:c.99343A>T (TTN) NP_001243779.1:p.Arg33115Ter
NM_003319.4:c.77071A>T (TTN) NP_003310.4:p.Arg25691Ter
NM_133378.4:c.96562A>T (TTN) NP_596869.4:p.Arg32188Ter
NM_133432.3:c.77446A>T (TTN) NP_597676.3:p.Arg25816Ter
NM_133437.4:c.77647A>T (TTN) NP_597681.4:p.Arg25883Ter
NR_038271.1:n.446+8713T>A (TTN-AS1)
NR_038272.1:n.220-3383T>A (TTN-AS1)
ENST00000342175.10:c.77647A>T (TTN) ENSP00000340554.6:p.Arg25883Ter
ENST00000342175.11:c.77647A>T (TTN) ENSP00000340554.6:p.Arg25883Ter
ENST00000342992.10:c.96562A>T (TTN) ENSP00000343764.6:p.Arg32188Ter
ENST00000342992.11:c.96562A>T (TTN) ENSP00000343764.6:p.Arg32188Ter
ENST00000359218.10:c.77446A>T (TTN) ENSP00000352154.5:p.Arg25816Ter
ENST00000359218.9:c.77446A>T (TTN) ENSP00000352154.5:p.Arg25816Ter
ENST00000460472.6:c.77071A>T (TTN) ENSP00000434586.1:p.Arg25691Ter
ENST00000591111.5:c.99343A>T (TTN) ENSP00000465570.1:p.Arg33115Ter
ENST00000615779.4:c.99343A>T (TTN) ENSP00000483597.1:p.Arg33115Ter
XM_011511729.1:c.103363A>T (TTN) XP_011510031.1:p.Arg34455Ter
XM_011511730.1:c.77257A>T (TTN) XP_011510032.1:p.Arg25753Ter
XM_011511731.1:c.77116A>T (TTN) XP_011510033.1:p.Arg25706Ter
XM_017004819.1:c.103159A>T (TTN) XP_016860308.1:p.Arg34387Ter
XM_017004820.1:c.98557A>T (TTN) XP_016860309.1:p.Arg32853Ter
XM_017004821.1:c.98554A>T (TTN) XP_016860310.1:p.Arg32852Ter
XM_017004822.1:c.95596A>T (TTN) XP_016860311.1:p.Arg31866Ter
XM_017004823.1:c.77212A>T (TTN) XP_016860312.1:p.Arg25738Ter
XM_024453094.1:c.98707A>T (TTN) XP_024308862.1:p.Arg32903Ter
XM_024453095.1:c.98704A>T (TTN) XP_024308863.1:p.Arg32902Ter
XM_024453096.1:c.98137A>T (TTN) XP_024308864.1:p.Arg32713Ter
XM_024453097.1:c.95479A>T (TTN) XP_024308865.1:p.Arg31827Ter
XM_024453098.1:c.95398A>T (TTN) XP_024308866.1:p.Arg31800Ter
XM_024453099.1:c.77161A>T (TTN) XP_024308867.1:p.Arg25721Ter
XM_024453100.1:c.67015A>T (TTN) XP_024308868.1:p.Arg22339Ter