Canonical Allele Identifier: CA349570707
Community Standard Title: NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563223T>A , CM000664.2:g.178563223T>A GRCh38
NC_000002.11:g.179427950T>A , CM000664.1:g.179427950T>A GRCh37
NC_000002.10:g.179136196T>A NCBI36
NG_011618.3:g.272580A>T , LRG_391:g.272580A>T
NG_051363.1:g.45397T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82909A>T (TTN) MANE Select NP_001254479.2:p.Lys27637Ter
ENST00000589042.5:c.82909A>T (TTN) MANE Select ENSP00000467141.1:p.Lys27637Ter
NM_001256850.1:c.77986A>T (TTN) NP_001243779.1:p.Lys25996Ter
NM_003319.4:c.55714A>T (TTN) NP_003310.4:p.Lys18572Ter
NM_133378.4:c.75205A>T (TTN) NP_596869.4:p.Lys25069Ter
NM_133432.3:c.56089A>T (TTN) NP_597676.3:p.Lys18697Ter
NM_133437.4:c.56290A>T (TTN) NP_597681.4:p.Lys18764Ter
NR_038271.1:n.447-8077T>A (TTN-AS1)
NR_038272.1:n.2044-19349T>A (TTN-AS1)
ENST00000342175.10:c.56290A>T (TTN) ENSP00000340554.6:p.Lys18764Ter
ENST00000342175.11:c.56290A>T (TTN) ENSP00000340554.6:p.Lys18764Ter
ENST00000342992.10:c.75205A>T (TTN) ENSP00000343764.6:p.Lys25069Ter
ENST00000342992.11:c.75205A>T (TTN) ENSP00000343764.6:p.Lys25069Ter
ENST00000359218.10:c.56089A>T (TTN) ENSP00000352154.5:p.Lys18697Ter
ENST00000359218.9:c.56089A>T (TTN) ENSP00000352154.5:p.Lys18697Ter
ENST00000460472.6:c.55714A>T (TTN) ENSP00000434586.1:p.Lys18572Ter
ENST00000591111.5:c.77986A>T (TTN) ENSP00000465570.1:p.Lys25996Ter
ENST00000615779.4:c.77986A>T (TTN) ENSP00000483597.1:p.Lys25996Ter
XM_011511729.1:c.82006A>T (TTN) XP_011510031.1:p.Lys27336Ter
XM_011511730.1:c.55900A>T (TTN) XP_011510032.1:p.Lys18634Ter
XM_011511731.1:c.55759A>T (TTN) XP_011510033.1:p.Lys18587Ter
XM_017004819.1:c.81802A>T (TTN) XP_016860308.1:p.Lys27268Ter
XM_017004820.1:c.77200A>T (TTN) XP_016860309.1:p.Lys25734Ter
XM_017004821.1:c.77197A>T (TTN) XP_016860310.1:p.Lys25733Ter
XM_017004822.1:c.74239A>T (TTN) XP_016860311.1:p.Lys24747Ter
XM_017004823.1:c.55855A>T (TTN) XP_016860312.1:p.Lys18619Ter
XM_024453094.1:c.77350A>T (TTN) XP_024308862.1:p.Lys25784Ter
XM_024453095.1:c.77347A>T (TTN) XP_024308863.1:p.Lys25783Ter
XM_024453096.1:c.76780A>T (TTN) XP_024308864.1:p.Lys25594Ter
XM_024453097.1:c.74122A>T (TTN) XP_024308865.1:p.Lys24708Ter
XM_024453098.1:c.74041A>T (TTN) XP_024308866.1:p.Lys24681Ter
XM_024453099.1:c.55804A>T (TTN) XP_024308867.1:p.Lys18602Ter
XM_024453100.1:c.45658A>T (TTN) XP_024308868.1:p.Lys15220Ter