Canonical Allele Identifier: CA349410810
Community Standard Title: NM_001267550.2(TTN):c.104827C>T (p.Arg34943Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531788G>A , CM000664.2:g.178531788G>A GRCh38
NC_000002.11:g.179396515G>A , CM000664.1:g.179396515G>A GRCh37
NC_000002.10:g.179104761G>A NCBI36
NG_011618.3:g.304015C>T , LRG_391:g.304015C>T
NG_051363.1:g.13962G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104827C>T (TTN) MANE Select NP_001254479.2:p.Arg34943Ter
ENST00000589042.5:c.104827C>T (TTN) MANE Select ENSP00000467141.1:p.Arg34943Ter
NM_001256850.1:c.99904C>T (TTN) NP_001243779.1:p.Arg33302Ter
NM_003319.4:c.77632C>T (TTN) NP_003310.4:p.Arg25878Ter
NM_133378.4:c.97123C>T (TTN) NP_596869.4:p.Arg32375Ter
NM_133432.3:c.78007C>T (TTN) NP_597676.3:p.Arg26003Ter
NM_133437.4:c.78208C>T (TTN) NP_597681.4:p.Arg26070Ter
NR_038271.1:n.446+8152G>A (TTN-AS1)
NR_038272.1:n.220-3944G>A (TTN-AS1)
ENST00000342175.10:c.78208C>T (TTN) ENSP00000340554.6:p.Arg26070Ter
ENST00000342175.11:c.78208C>T (TTN) ENSP00000340554.6:p.Arg26070Ter
ENST00000342992.10:c.97123C>T (TTN) ENSP00000343764.6:p.Arg32375Ter
ENST00000342992.11:c.97123C>T (TTN) ENSP00000343764.6:p.Arg32375Ter
ENST00000359218.10:c.78007C>T (TTN) ENSP00000352154.5:p.Arg26003Ter
ENST00000359218.9:c.78007C>T (TTN) ENSP00000352154.5:p.Arg26003Ter
ENST00000460472.6:c.77632C>T (TTN) ENSP00000434586.1:p.Arg25878Ter
ENST00000591111.5:c.99904C>T (TTN) ENSP00000465570.1:p.Arg33302Ter
ENST00000615779.4:c.99904C>T (TTN) ENSP00000483597.1:p.Arg33302Ter
XM_011511729.1:c.103924C>T (TTN) XP_011510031.1:p.Arg34642Ter
XM_011511730.1:c.77818C>T (TTN) XP_011510032.1:p.Arg25940Ter
XM_011511731.1:c.77677C>T (TTN) XP_011510033.1:p.Arg25893Ter
XM_017004819.1:c.103720C>T (TTN) XP_016860308.1:p.Arg34574Ter
XM_017004820.1:c.99118C>T (TTN) XP_016860309.1:p.Arg33040Ter
XM_017004821.1:c.99115C>T (TTN) XP_016860310.1:p.Arg33039Ter
XM_017004822.1:c.96157C>T (TTN) XP_016860311.1:p.Arg32053Ter
XM_017004823.1:c.77773C>T (TTN) XP_016860312.1:p.Arg25925Ter
XM_024453094.1:c.99268C>T (TTN) XP_024308862.1:p.Arg33090Ter
XM_024453095.1:c.99265C>T (TTN) XP_024308863.1:p.Arg33089Ter
XM_024453096.1:c.98698C>T (TTN) XP_024308864.1:p.Arg32900Ter
XM_024453097.1:c.96040C>T (TTN) XP_024308865.1:p.Arg32014Ter
XM_024453098.1:c.95959C>T (TTN) XP_024308866.1:p.Arg31987Ter
XM_024453099.1:c.77722C>T (TTN) XP_024308867.1:p.Arg25908Ter
XM_024453100.1:c.67576C>T (TTN) XP_024308868.1:p.Arg22526Ter