Canonical Allele Identifier: CA349568257
Community Standard Title: NM_001267550.2(TTN):c.83335A>T (p.Lys27779Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562797T>A , CM000664.2:g.178562797T>A GRCh38
NC_000002.11:g.179427524T>A , CM000664.1:g.179427524T>A GRCh37
NC_000002.10:g.179135770T>A NCBI36
NG_011618.3:g.273006A>T , LRG_391:g.273006A>T
NG_051363.1:g.44971T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.83335A>T (TTN) MANE Select NP_001254479.2:p.Lys27779Ter
ENST00000589042.5:c.83335A>T (TTN) MANE Select ENSP00000467141.1:p.Lys27779Ter
NM_001256850.1:c.78412A>T (TTN) NP_001243779.1:p.Lys26138Ter
NM_003319.4:c.56140A>T (TTN) NP_003310.4:p.Lys18714Ter
NM_133378.4:c.75631A>T (TTN) NP_596869.4:p.Lys25211Ter
NM_133432.3:c.56515A>T (TTN) NP_597676.3:p.Lys18839Ter
NM_133437.4:c.56716A>T (TTN) NP_597681.4:p.Lys18906Ter
NR_038271.1:n.447-8503T>A (TTN-AS1)
NR_038272.1:n.2044-19775T>A (TTN-AS1)
ENST00000342175.10:c.56716A>T (TTN) ENSP00000340554.6:p.Lys18906Ter
ENST00000342175.11:c.56716A>T (TTN) ENSP00000340554.6:p.Lys18906Ter
ENST00000342992.10:c.75631A>T (TTN) ENSP00000343764.6:p.Lys25211Ter
ENST00000342992.11:c.75631A>T (TTN) ENSP00000343764.6:p.Lys25211Ter
ENST00000359218.10:c.56515A>T (TTN) ENSP00000352154.5:p.Lys18839Ter
ENST00000359218.9:c.56515A>T (TTN) ENSP00000352154.5:p.Lys18839Ter
ENST00000460472.6:c.56140A>T (TTN) ENSP00000434586.1:p.Lys18714Ter
ENST00000591111.5:c.78412A>T (TTN) ENSP00000465570.1:p.Lys26138Ter
ENST00000615779.4:c.78412A>T (TTN) ENSP00000483597.1:p.Lys26138Ter
XM_011511729.1:c.82432A>T (TTN) XP_011510031.1:p.Lys27478Ter
XM_011511730.1:c.56326A>T (TTN) XP_011510032.1:p.Lys18776Ter
XM_011511731.1:c.56185A>T (TTN) XP_011510033.1:p.Lys18729Ter
XM_017004819.1:c.82228A>T (TTN) XP_016860308.1:p.Lys27410Ter
XM_017004820.1:c.77626A>T (TTN) XP_016860309.1:p.Lys25876Ter
XM_017004821.1:c.77623A>T (TTN) XP_016860310.1:p.Lys25875Ter
XM_017004822.1:c.74665A>T (TTN) XP_016860311.1:p.Lys24889Ter
XM_017004823.1:c.56281A>T (TTN) XP_016860312.1:p.Lys18761Ter
XM_024453094.1:c.77776A>T (TTN) XP_024308862.1:p.Lys25926Ter
XM_024453095.1:c.77773A>T (TTN) XP_024308863.1:p.Lys25925Ter
XM_024453096.1:c.77206A>T (TTN) XP_024308864.1:p.Lys25736Ter
XM_024453097.1:c.74548A>T (TTN) XP_024308865.1:p.Lys24850Ter
XM_024453098.1:c.74467A>T (TTN) XP_024308866.1:p.Lys24823Ter
XM_024453099.1:c.56230A>T (TTN) XP_024308867.1:p.Lys18744Ter
XM_024453100.1:c.46084A>T (TTN) XP_024308868.1:p.Lys15362Ter