Canonical Allele Identifier: CA349526755
Community Standard Title: NM_001267550.2(TTN):c.56794A>T (p.Lys18932Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178598916T>A , CM000664.2:g.178598916T>A GRCh38
NC_000002.11:g.179463643T>A , CM000664.1:g.179463643T>A GRCh37
NC_000002.10:g.179171888T>A NCBI36
NG_011618.3:g.236887A>T , LRG_391:g.236887A>T
NG_051363.1:g.81090T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56794A>T (TTN) MANE Select NP_001254479.2:p.Lys18932Ter
ENST00000589042.5:c.56794A>T (TTN) MANE Select ENSP00000467141.1:p.Lys18932Ter
NM_001256850.1:c.51871A>T (TTN) NP_001243779.1:p.Lys17291Ter
NM_003319.4:c.29599A>T (TTN) NP_003310.4:p.Lys9867Ter
NM_133378.4:c.49090A>T (TTN) NP_596869.4:p.Lys16364Ter
NM_133432.3:c.29974A>T (TTN) NP_597676.3:p.Lys9992Ter
NM_133437.4:c.30175A>T (TTN) NP_597681.4:p.Lys10059Ter
NR_038271.1:n.682+1235T>A (TTN-AS1)
NR_038272.1:n.3568+243T>A (TTN-AS1)
ENST00000342175.10:c.30175A>T (TTN) ENSP00000340554.6:p.Lys10059Ter
ENST00000342175.11:c.30175A>T (TTN) ENSP00000340554.6:p.Lys10059Ter
ENST00000342992.10:c.49090A>T (TTN) ENSP00000343764.6:p.Lys16364Ter
ENST00000342992.11:c.49090A>T (TTN) ENSP00000343764.6:p.Lys16364Ter
ENST00000359218.10:c.29974A>T (TTN) ENSP00000352154.5:p.Lys9992Ter
ENST00000359218.9:c.29974A>T (TTN) ENSP00000352154.5:p.Lys9992Ter
ENST00000460472.6:c.29599A>T (TTN) ENSP00000434586.1:p.Lys9867Ter
ENST00000591111.5:c.51871A>T (TTN) ENSP00000465570.1:p.Lys17291Ter
ENST00000615779.4:c.51871A>T (TTN) ENSP00000483597.1:p.Lys17291Ter
XM_011511729.1:c.55891A>T (TTN) XP_011510031.1:p.Lys18631Ter
XM_011511730.1:c.29785A>T (TTN) XP_011510032.1:p.Lys9929Ter
XM_011511731.1:c.29644A>T (TTN) XP_011510033.1:p.Lys9882Ter
XM_017004819.1:c.55687A>T (TTN) XP_016860308.1:p.Lys18563Ter
XM_017004820.1:c.51085A>T (TTN) XP_016860309.1:p.Lys17029Ter
XM_017004821.1:c.51082A>T (TTN) XP_016860310.1:p.Lys17028Ter
XM_017004822.1:c.48124A>T (TTN) XP_016860311.1:p.Lys16042Ter
XM_017004823.1:c.29740A>T (TTN) XP_016860312.1:p.Lys9914Ter
XM_024453094.1:c.51235A>T (TTN) XP_024308862.1:p.Lys17079Ter
XM_024453095.1:c.51232A>T (TTN) XP_024308863.1:p.Lys17078Ter
XM_024453096.1:c.50665A>T (TTN) XP_024308864.1:p.Lys16889Ter
XM_024453097.1:c.48007A>T (TTN) XP_024308865.1:p.Lys16003Ter
XM_024453098.1:c.47926A>T (TTN) XP_024308866.1:p.Lys15976Ter
XM_024453099.1:c.29689A>T (TTN) XP_024308867.1:p.Lys9897Ter
XM_024453100.1:c.19543A>T (TTN) XP_024308868.1:p.Lys6515Ter