Canonical Allele Identifier: CA349515583
Community Standard Title: NM_001267550.2(TTN):c.89827A>T (p.Lys29943Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553073T>A , CM000664.2:g.178553073T>A GRCh38
NC_000002.11:g.179417800T>A , CM000664.1:g.179417800T>A GRCh37
NC_000002.10:g.179126046T>A NCBI36
NG_011618.3:g.282730A>T , LRG_391:g.282730A>T
NG_051363.1:g.35247T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89827A>T (TTN) MANE Select NP_001254479.2:p.Lys29943Ter
ENST00000589042.5:c.89827A>T (TTN) MANE Select ENSP00000467141.1:p.Lys29943Ter
NM_001256850.1:c.84904A>T (TTN) NP_001243779.1:p.Lys28302Ter
NM_003319.4:c.62632A>T (TTN) NP_003310.4:p.Lys20878Ter
NM_133378.4:c.82123A>T (TTN) NP_596869.4:p.Lys27375Ter
NM_133432.3:c.63007A>T (TTN) NP_597676.3:p.Lys21003Ter
NM_133437.4:c.63208A>T (TTN) NP_597681.4:p.Lys21070Ter
NR_038271.1:n.447-18227T>A (TTN-AS1)
NR_038272.1:n.2043+10712T>A (TTN-AS1)
ENST00000342175.10:c.63208A>T (TTN) ENSP00000340554.6:p.Lys21070Ter
ENST00000342175.11:c.63208A>T (TTN) ENSP00000340554.6:p.Lys21070Ter
ENST00000342992.10:c.82123A>T (TTN) ENSP00000343764.6:p.Lys27375Ter
ENST00000342992.11:c.82123A>T (TTN) ENSP00000343764.6:p.Lys27375Ter
ENST00000359218.10:c.63007A>T (TTN) ENSP00000352154.5:p.Lys21003Ter
ENST00000359218.9:c.63007A>T (TTN) ENSP00000352154.5:p.Lys21003Ter
ENST00000460472.6:c.62632A>T (TTN) ENSP00000434586.1:p.Lys20878Ter
ENST00000591111.5:c.84904A>T (TTN) ENSP00000465570.1:p.Lys28302Ter
ENST00000615779.4:c.84904A>T (TTN) ENSP00000483597.1:p.Lys28302Ter
XM_011511729.1:c.88924A>T (TTN) XP_011510031.1:p.Lys29642Ter
XM_011511730.1:c.62818A>T (TTN) XP_011510032.1:p.Lys20940Ter
XM_011511731.1:c.62677A>T (TTN) XP_011510033.1:p.Lys20893Ter
XM_017004819.1:c.88720A>T (TTN) XP_016860308.1:p.Lys29574Ter
XM_017004820.1:c.84118A>T (TTN) XP_016860309.1:p.Lys28040Ter
XM_017004821.1:c.84115A>T (TTN) XP_016860310.1:p.Lys28039Ter
XM_017004822.1:c.81157A>T (TTN) XP_016860311.1:p.Lys27053Ter
XM_017004823.1:c.62773A>T (TTN) XP_016860312.1:p.Lys20925Ter
XM_024453094.1:c.84268A>T (TTN) XP_024308862.1:p.Lys28090Ter
XM_024453095.1:c.84265A>T (TTN) XP_024308863.1:p.Lys28089Ter
XM_024453096.1:c.83698A>T (TTN) XP_024308864.1:p.Lys27900Ter
XM_024453097.1:c.81040A>T (TTN) XP_024308865.1:p.Lys27014Ter
XM_024453098.1:c.80959A>T (TTN) XP_024308866.1:p.Lys26987Ter
XM_024453099.1:c.62722A>T (TTN) XP_024308867.1:p.Lys20908Ter
XM_024453100.1:c.52576A>T (TTN) XP_024308868.1:p.Lys17526Ter