Canonical Allele Identifier: CA349557603
Community Standard Title: NM_001267550.2(TTN):c.53914C>T (p.Arg17972Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178605263G>A , CM000664.2:g.178605263G>A GRCh38
NC_000002.11:g.179469990G>A , CM000664.1:g.179469990G>A GRCh37
NC_000002.10:g.179178235G>A NCBI36
NG_011618.3:g.230540C>T , LRG_391:g.230540C>T
NG_051363.1:g.87437G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53914C>T (TTN) MANE Select NP_001254479.2:p.Arg17972Ter
ENST00000589042.5:c.53914C>T (TTN) MANE Select ENSP00000467141.1:p.Arg17972Ter
NM_001256850.1:c.48991C>T (TTN) NP_001243779.1:p.Arg16331Ter
NM_003319.4:c.26719C>T (TTN) NP_003310.4:p.Arg8907Ter
NM_133378.4:c.46210C>T (TTN) NP_596869.4:p.Arg15404Ter
NM_133432.3:c.27094C>T (TTN) NP_597676.3:p.Arg9032Ter
NM_133437.4:c.27295C>T (TTN) NP_597681.4:p.Arg9099Ter
NR_038271.1:n.683-2904G>A (TTN-AS1)
NR_038272.1:n.4450G>A (TTN-AS1)
ENST00000342175.10:c.27295C>T (TTN) ENSP00000340554.6:p.Arg9099Ter
ENST00000342175.11:c.27295C>T (TTN) ENSP00000340554.6:p.Arg9099Ter
ENST00000342992.10:c.46210C>T (TTN) ENSP00000343764.6:p.Arg15404Ter
ENST00000342992.11:c.46210C>T (TTN) ENSP00000343764.6:p.Arg15404Ter
ENST00000359218.10:c.27094C>T (TTN) ENSP00000352154.5:p.Arg9032Ter
ENST00000359218.9:c.27094C>T (TTN) ENSP00000352154.5:p.Arg9032Ter
ENST00000460472.6:c.26719C>T (TTN) ENSP00000434586.1:p.Arg8907Ter
ENST00000591111.5:c.48991C>T (TTN) ENSP00000465570.1:p.Arg16331Ter
ENST00000615779.4:c.48991C>T (TTN) ENSP00000483597.1:p.Arg16331Ter
XM_011511729.1:c.53011C>T (TTN) XP_011510031.1:p.Arg17671Ter
XM_011511730.1:c.26905C>T (TTN) XP_011510032.1:p.Arg8969Ter
XM_011511731.1:c.26764C>T (TTN) XP_011510033.1:p.Arg8922Ter
XM_017004819.1:c.52807C>T (TTN) XP_016860308.1:p.Arg17603Ter
XM_017004820.1:c.48205C>T (TTN) XP_016860309.1:p.Arg16069Ter
XM_017004821.1:c.48202C>T (TTN) XP_016860310.1:p.Arg16068Ter
XM_017004822.1:c.45244C>T (TTN) XP_016860311.1:p.Arg15082Ter
XM_017004823.1:c.26860C>T (TTN) XP_016860312.1:p.Arg8954Ter
XM_024453094.1:c.48355C>T (TTN) XP_024308862.1:p.Arg16119Ter
XM_024453095.1:c.48352C>T (TTN) XP_024308863.1:p.Arg16118Ter
XM_024453096.1:c.47785C>T (TTN) XP_024308864.1:p.Arg15929Ter
XM_024453097.1:c.45127C>T (TTN) XP_024308865.1:p.Arg15043Ter
XM_024453098.1:c.45046C>T (TTN) XP_024308866.1:p.Arg15016Ter
XM_024453099.1:c.26809C>T (TTN) XP_024308867.1:p.Arg8937Ter
XM_024453100.1:c.16663C>T (TTN) XP_024308868.1:p.Arg5555Ter