Canonical Allele Identifier: CA1993628
Community Standard Title: NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604269G>A , CM000664.2:g.178604269G>A GRCh38
NC_000002.11:g.179468996G>A , CM000664.1:g.179468996G>A GRCh37
NC_000002.10:g.179177241G>A NCBI36
NG_011618.3:g.231534C>T , LRG_391:g.231534C>T
NG_051363.1:g.86443G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.54418C>T (TTN) MANE Select NP_001254479.2:p.Arg18140Ter
ENST00000589042.5:c.54418C>T (TTN) MANE Select ENSP00000467141.1:p.Arg18140Ter
NM_001256850.1:c.49495C>T (TTN) NP_001243779.1:p.Arg16499Ter
NM_003319.4:c.27223C>T (TTN) NP_003310.4:p.Arg9075Ter
NM_133378.4:c.46714C>T (TTN) NP_596869.4:p.Arg15572Ter
NM_133432.3:c.27598C>T (TTN) NP_597676.3:p.Arg9200Ter
NM_133437.4:c.27799C>T (TTN) NP_597681.4:p.Arg9267Ter
NR_038271.1:n.683-3898G>A (TTN-AS1)
NR_038272.1:n.3918-462G>A (TTN-AS1)
ENST00000342175.10:c.27799C>T (TTN) ENSP00000340554.6:p.Arg9267Ter
ENST00000342175.11:c.27799C>T (TTN) ENSP00000340554.6:p.Arg9267Ter
ENST00000342992.10:c.46714C>T (TTN) ENSP00000343764.6:p.Arg15572Ter
ENST00000342992.11:c.46714C>T (TTN) ENSP00000343764.6:p.Arg15572Ter
ENST00000359218.10:c.27598C>T (TTN) ENSP00000352154.5:p.Arg9200Ter
ENST00000359218.9:c.27598C>T (TTN) ENSP00000352154.5:p.Arg9200Ter
ENST00000460472.6:c.27223C>T (TTN) ENSP00000434586.1:p.Arg9075Ter
ENST00000591111.5:c.49495C>T (TTN) ENSP00000465570.1:p.Arg16499Ter
ENST00000615779.4:c.49495C>T (TTN) ENSP00000483597.1:p.Arg16499Ter
XM_011511729.1:c.53515C>T (TTN) XP_011510031.1:p.Arg17839Ter
XM_011511730.1:c.27409C>T (TTN) XP_011510032.1:p.Arg9137Ter
XM_011511731.1:c.27268C>T (TTN) XP_011510033.1:p.Arg9090Ter
XM_017004819.1:c.53311C>T (TTN) XP_016860308.1:p.Arg17771Ter
XM_017004820.1:c.48709C>T (TTN) XP_016860309.1:p.Arg16237Ter
XM_017004821.1:c.48706C>T (TTN) XP_016860310.1:p.Arg16236Ter
XM_017004822.1:c.45748C>T (TTN) XP_016860311.1:p.Arg15250Ter
XM_017004823.1:c.27364C>T (TTN) XP_016860312.1:p.Arg9122Ter
XM_024453094.1:c.48859C>T (TTN) XP_024308862.1:p.Arg16287Ter
XM_024453095.1:c.48856C>T (TTN) XP_024308863.1:p.Arg16286Ter
XM_024453096.1:c.48289C>T (TTN) XP_024308864.1:p.Arg16097Ter
XM_024453097.1:c.45631C>T (TTN) XP_024308865.1:p.Arg15211Ter
XM_024453098.1:c.45550C>T (TTN) XP_024308866.1:p.Arg15184Ter
XM_024453099.1:c.27313C>T (TTN) XP_024308867.1:p.Arg9105Ter
XM_024453100.1:c.17167C>T (TTN) XP_024308868.1:p.Arg5723Ter