Canonical Allele Identifier: CA349611659
Community Standard Title: NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568884G>A , CM000664.2:g.178568884G>A GRCh38
NC_000002.11:g.179433611G>A , CM000664.1:g.179433611G>A GRCh37
NC_000002.10:g.179141857G>A NCBI36
NG_011618.3:g.266919C>T , LRG_391:g.266919C>T
NG_051363.1:g.51058G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77248C>T (TTN) MANE Select NP_001254479.2:p.Arg25750Ter
ENST00000589042.5:c.77248C>T (TTN) MANE Select ENSP00000467141.1:p.Arg25750Ter
NM_001256850.1:c.72325C>T (TTN) NP_001243779.1:p.Arg24109Ter
NM_003319.4:c.50053C>T (TTN) NP_003310.4:p.Arg16685Ter
NM_133378.4:c.69544C>T (TTN) NP_596869.4:p.Arg23182Ter
NM_133432.3:c.50428C>T (TTN) NP_597676.3:p.Arg16810Ter
NM_133437.4:c.50629C>T (TTN) NP_597681.4:p.Arg16877Ter
NR_038271.1:n.447-2416G>A (TTN-AS1)
NR_038272.1:n.2044-13688G>A (TTN-AS1)
ENST00000342175.10:c.50629C>T (TTN) ENSP00000340554.6:p.Arg16877Ter
ENST00000342175.11:c.50629C>T (TTN) ENSP00000340554.6:p.Arg16877Ter
ENST00000342992.10:c.69544C>T (TTN) ENSP00000343764.6:p.Arg23182Ter
ENST00000342992.11:c.69544C>T (TTN) ENSP00000343764.6:p.Arg23182Ter
ENST00000359218.10:c.50428C>T (TTN) ENSP00000352154.5:p.Arg16810Ter
ENST00000359218.9:c.50428C>T (TTN) ENSP00000352154.5:p.Arg16810Ter
ENST00000460472.6:c.50053C>T (TTN) ENSP00000434586.1:p.Arg16685Ter
ENST00000591111.5:c.72325C>T (TTN) ENSP00000465570.1:p.Arg24109Ter
ENST00000615779.4:c.72325C>T (TTN) ENSP00000483597.1:p.Arg24109Ter
XM_011511729.1:c.76345C>T (TTN) XP_011510031.1:p.Arg25449Ter
XM_011511730.1:c.50239C>T (TTN) XP_011510032.1:p.Arg16747Ter
XM_011511731.1:c.50098C>T (TTN) XP_011510033.1:p.Arg16700Ter
XM_017004819.1:c.76141C>T (TTN) XP_016860308.1:p.Arg25381Ter
XM_017004820.1:c.71539C>T (TTN) XP_016860309.1:p.Arg23847Ter
XM_017004821.1:c.71536C>T (TTN) XP_016860310.1:p.Arg23846Ter
XM_017004822.1:c.68578C>T (TTN) XP_016860311.1:p.Arg22860Ter
XM_017004823.1:c.50194C>T (TTN) XP_016860312.1:p.Arg16732Ter
XM_024453094.1:c.71689C>T (TTN) XP_024308862.1:p.Arg23897Ter
XM_024453095.1:c.71686C>T (TTN) XP_024308863.1:p.Arg23896Ter
XM_024453096.1:c.71119C>T (TTN) XP_024308864.1:p.Arg23707Ter
XM_024453097.1:c.68461C>T (TTN) XP_024308865.1:p.Arg22821Ter
XM_024453098.1:c.68380C>T (TTN) XP_024308866.1:p.Arg22794Ter
XM_024453099.1:c.50143C>T (TTN) XP_024308867.1:p.Arg16715Ter
XM_024453100.1:c.39997C>T (TTN) XP_024308868.1:p.Arg13333Ter