Canonical Allele Identifier: CA349558808
Community Standard Title: NM_001267550.2(TTN):c.84643A>T (p.Lys28215Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561489T>A , CM000664.2:g.178561489T>A GRCh38
NC_000002.11:g.179426216T>A , CM000664.1:g.179426216T>A GRCh37
NC_000002.10:g.179134462T>A NCBI36
NG_011618.3:g.274314A>T , LRG_391:g.274314A>T
NG_051363.1:g.43663T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.84643A>T (TTN) MANE Select NP_001254479.2:p.Lys28215Ter
ENST00000589042.5:c.84643A>T (TTN) MANE Select ENSP00000467141.1:p.Lys28215Ter
NM_001256850.1:c.79720A>T (TTN) NP_001243779.1:p.Lys26574Ter
NM_003319.4:c.57448A>T (TTN) NP_003310.4:p.Lys19150Ter
NM_133378.4:c.76939A>T (TTN) NP_596869.4:p.Lys25647Ter
NM_133432.3:c.57823A>T (TTN) NP_597676.3:p.Lys19275Ter
NM_133437.4:c.58024A>T (TTN) NP_597681.4:p.Lys19342Ter
NR_038271.1:n.447-9811T>A (TTN-AS1)
NR_038272.1:n.2043+19128T>A (TTN-AS1)
ENST00000342175.10:c.58024A>T (TTN) ENSP00000340554.6:p.Lys19342Ter
ENST00000342175.11:c.58024A>T (TTN) ENSP00000340554.6:p.Lys19342Ter
ENST00000342992.10:c.76939A>T (TTN) ENSP00000343764.6:p.Lys25647Ter
ENST00000342992.11:c.76939A>T (TTN) ENSP00000343764.6:p.Lys25647Ter
ENST00000359218.10:c.57823A>T (TTN) ENSP00000352154.5:p.Lys19275Ter
ENST00000359218.9:c.57823A>T (TTN) ENSP00000352154.5:p.Lys19275Ter
ENST00000460472.6:c.57448A>T (TTN) ENSP00000434586.1:p.Lys19150Ter
ENST00000591111.5:c.79720A>T (TTN) ENSP00000465570.1:p.Lys26574Ter
ENST00000615779.4:c.79720A>T (TTN) ENSP00000483597.1:p.Lys26574Ter
XM_011511729.1:c.83740A>T (TTN) XP_011510031.1:p.Lys27914Ter
XM_011511730.1:c.57634A>T (TTN) XP_011510032.1:p.Lys19212Ter
XM_011511731.1:c.57493A>T (TTN) XP_011510033.1:p.Lys19165Ter
XM_017004819.1:c.83536A>T (TTN) XP_016860308.1:p.Lys27846Ter
XM_017004820.1:c.78934A>T (TTN) XP_016860309.1:p.Lys26312Ter
XM_017004821.1:c.78931A>T (TTN) XP_016860310.1:p.Lys26311Ter
XM_017004822.1:c.75973A>T (TTN) XP_016860311.1:p.Lys25325Ter
XM_017004823.1:c.57589A>T (TTN) XP_016860312.1:p.Lys19197Ter
XM_024453094.1:c.79084A>T (TTN) XP_024308862.1:p.Lys26362Ter
XM_024453095.1:c.79081A>T (TTN) XP_024308863.1:p.Lys26361Ter
XM_024453096.1:c.78514A>T (TTN) XP_024308864.1:p.Lys26172Ter
XM_024453097.1:c.75856A>T (TTN) XP_024308865.1:p.Lys25286Ter
XM_024453098.1:c.75775A>T (TTN) XP_024308866.1:p.Lys25259Ter
XM_024453099.1:c.57538A>T (TTN) XP_024308867.1:p.Lys19180Ter
XM_024453100.1:c.47392A>T (TTN) XP_024308868.1:p.Lys15798Ter