Canonical Allele Identifier: CA349567655
Community Standard Title: NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562716G>A , CM000664.2:g.178562716G>A GRCh38
NC_000002.11:g.179427443G>A , CM000664.1:g.179427443G>A GRCh37
NC_000002.10:g.179135689G>A NCBI36
NG_011618.3:g.273087C>T , LRG_391:g.273087C>T
NG_051363.1:g.44890G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.83416C>T (TTN) MANE Select NP_001254479.2:p.Arg27806Ter
ENST00000589042.5:c.83416C>T (TTN) MANE Select ENSP00000467141.1:p.Arg27806Ter
NM_001256850.1:c.78493C>T (TTN) NP_001243779.1:p.Arg26165Ter
NM_003319.4:c.56221C>T (TTN) NP_003310.4:p.Arg18741Ter
NM_133378.4:c.75712C>T (TTN) NP_596869.4:p.Arg25238Ter
NM_133432.3:c.56596C>T (TTN) NP_597676.3:p.Arg18866Ter
NM_133437.4:c.56797C>T (TTN) NP_597681.4:p.Arg18933Ter
NR_038271.1:n.447-8584G>A (TTN-AS1)
NR_038272.1:n.2044-19856G>A (TTN-AS1)
ENST00000342175.10:c.56797C>T (TTN) ENSP00000340554.6:p.Arg18933Ter
ENST00000342175.11:c.56797C>T (TTN) ENSP00000340554.6:p.Arg18933Ter
ENST00000342992.10:c.75712C>T (TTN) ENSP00000343764.6:p.Arg25238Ter
ENST00000342992.11:c.75712C>T (TTN) ENSP00000343764.6:p.Arg25238Ter
ENST00000359218.10:c.56596C>T (TTN) ENSP00000352154.5:p.Arg18866Ter
ENST00000359218.9:c.56596C>T (TTN) ENSP00000352154.5:p.Arg18866Ter
ENST00000460472.6:c.56221C>T (TTN) ENSP00000434586.1:p.Arg18741Ter
ENST00000591111.5:c.78493C>T (TTN) ENSP00000465570.1:p.Arg26165Ter
ENST00000615779.4:c.78493C>T (TTN) ENSP00000483597.1:p.Arg26165Ter
XM_011511729.1:c.82513C>T (TTN) XP_011510031.1:p.Arg27505Ter
XM_011511730.1:c.56407C>T (TTN) XP_011510032.1:p.Arg18803Ter
XM_011511731.1:c.56266C>T (TTN) XP_011510033.1:p.Arg18756Ter
XM_017004819.1:c.82309C>T (TTN) XP_016860308.1:p.Arg27437Ter
XM_017004820.1:c.77707C>T (TTN) XP_016860309.1:p.Arg25903Ter
XM_017004821.1:c.77704C>T (TTN) XP_016860310.1:p.Arg25902Ter
XM_017004822.1:c.74746C>T (TTN) XP_016860311.1:p.Arg24916Ter
XM_017004823.1:c.56362C>T (TTN) XP_016860312.1:p.Arg18788Ter
XM_024453094.1:c.77857C>T (TTN) XP_024308862.1:p.Arg25953Ter
XM_024453095.1:c.77854C>T (TTN) XP_024308863.1:p.Arg25952Ter
XM_024453096.1:c.77287C>T (TTN) XP_024308864.1:p.Arg25763Ter
XM_024453097.1:c.74629C>T (TTN) XP_024308865.1:p.Arg24877Ter
XM_024453098.1:c.74548C>T (TTN) XP_024308866.1:p.Arg24850Ter
XM_024453099.1:c.56311C>T (TTN) XP_024308867.1:p.Arg18771Ter
XM_024453100.1:c.46165C>T (TTN) XP_024308868.1:p.Arg15389Ter