Canonical Allele Identifier: CA349515124
Community Standard Title: NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178595636G>A , CM000664.2:g.178595636G>A GRCh38
NC_000002.11:g.179460363G>A , CM000664.1:g.179460363G>A GRCh37
NC_000002.10:g.179168609G>A NCBI36
NG_011618.3:g.240167C>T , LRG_391:g.240167C>T
NG_051363.1:g.77810G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.57718C>T (TTN) MANE Select NP_001254479.2:p.Arg19240Ter
ENST00000589042.5:c.57718C>T (TTN) MANE Select ENSP00000467141.1:p.Arg19240Ter
NM_001256850.1:c.52795C>T (TTN) NP_001243779.1:p.Arg17599Ter
NM_003319.4:c.30523C>T (TTN) NP_003310.4:p.Arg10175Ter
NM_133378.4:c.50014C>T (TTN) NP_596869.4:p.Arg16672Ter
NM_133432.3:c.30898C>T (TTN) NP_597676.3:p.Arg10300Ter
NM_133437.4:c.31099C>T (TTN) NP_597681.4:p.Arg10367Ter
NR_038271.1:n.597-1960G>A (TTN-AS1)
NR_038272.1:n.3365-1960G>A (TTN-AS1)
ENST00000342175.10:c.31099C>T (TTN) ENSP00000340554.6:p.Arg10367Ter
ENST00000342175.11:c.31099C>T (TTN) ENSP00000340554.6:p.Arg10367Ter
ENST00000342992.10:c.50014C>T (TTN) ENSP00000343764.6:p.Arg16672Ter
ENST00000342992.11:c.50014C>T (TTN) ENSP00000343764.6:p.Arg16672Ter
ENST00000359218.10:c.30898C>T (TTN) ENSP00000352154.5:p.Arg10300Ter
ENST00000359218.9:c.30898C>T (TTN) ENSP00000352154.5:p.Arg10300Ter
ENST00000460472.6:c.30523C>T (TTN) ENSP00000434586.1:p.Arg10175Ter
ENST00000591111.5:c.52795C>T (TTN) ENSP00000465570.1:p.Arg17599Ter
ENST00000615779.4:c.52795C>T (TTN) ENSP00000483597.1:p.Arg17599Ter
XM_011511729.1:c.56815C>T (TTN) XP_011510031.1:p.Arg18939Ter
XM_011511730.1:c.30709C>T (TTN) XP_011510032.1:p.Arg10237Ter
XM_011511731.1:c.30568C>T (TTN) XP_011510033.1:p.Arg10190Ter
XM_017004819.1:c.56611C>T (TTN) XP_016860308.1:p.Arg18871Ter
XM_017004820.1:c.52009C>T (TTN) XP_016860309.1:p.Arg17337Ter
XM_017004821.1:c.52006C>T (TTN) XP_016860310.1:p.Arg17336Ter
XM_017004822.1:c.49048C>T (TTN) XP_016860311.1:p.Arg16350Ter
XM_017004823.1:c.30664C>T (TTN) XP_016860312.1:p.Arg10222Ter
XM_024453094.1:c.52159C>T (TTN) XP_024308862.1:p.Arg17387Ter
XM_024453095.1:c.52156C>T (TTN) XP_024308863.1:p.Arg17386Ter
XM_024453096.1:c.51589C>T (TTN) XP_024308864.1:p.Arg17197Ter
XM_024453097.1:c.48931C>T (TTN) XP_024308865.1:p.Arg16311Ter
XM_024453098.1:c.48850C>T (TTN) XP_024308866.1:p.Arg16284Ter
XM_024453099.1:c.30613C>T (TTN) XP_024308867.1:p.Arg10205Ter
XM_024453100.1:c.20467C>T (TTN) XP_024308868.1:p.Arg6823Ter