Canonical Allele Identifier: CA349504148

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551847A>C , CM000664.2:g.178551847A>C GRCh38
NC_000002.11:g.179416574A>C , CM000664.1:g.179416574A>C GRCh37
NC_000002.10:g.179124820A>C NCBI36
NG_011618.3:g.283956T>G , LRG_391:g.283956T>G
NG_051363.1:g.34021A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83349T>G (TTN) ENSP00000343764.6:p.Asp27783Glu
ENST00000342175.11:c.64434T>G (TTN) ENSP00000340554.6:p.Asp21478Glu
ENST00000359218.10:c.64233T>G (TTN) ENSP00000352154.5:p.Asp21411Glu
ENST00000342175.10:c.64434T>G (TTN) ENSP00000340554.6:p.Asp21478Glu
ENST00000342992.10:c.83349T>G (TTN) ENSP00000343764.6:p.Asp27783Glu
ENST00000359218.9:c.64233T>G (TTN) ENSP00000352154.5:p.Asp21411Glu
ENST00000460472.6:c.63858T>G (TTN) ENSP00000434586.1:p.Asp21286Glu
ENST00000589042.5:c.91053T>G (TTN) MANE Select ENSP00000467141.1:p.Asp30351Glu
ENST00000591111.5:c.86130T>G (TTN) ENSP00000465570.1:p.Asp28710Glu
ENST00000615779.4:c.86130T>G (TTN) ENSP00000483597.1:p.Asp28710Glu
NM_001256850.1:c.86130T>G (TTN) NP_001243779.1:p.Asp28710Glu
NM_001267550.2:c.91053T>G (TTN) MANE Select NP_001254479.2:p.Asp30351Glu
NM_003319.4:c.63858T>G (TTN) NP_003310.4:p.Asp21286Glu
NM_133378.4:c.83349T>G (TTN) NP_596869.4:p.Asp27783Glu
NM_133432.3:c.64233T>G (TTN) NP_597676.3:p.Asp21411Glu
NM_133437.4:c.64434T>G (TTN) NP_597681.4:p.Asp21478Glu
NR_038271.1:n.447-19453A>C (TTN-AS1)
NR_038272.1:n.2043+9486A>C (TTN-AS1)
XM_011511729.1:c.90150T>G (TTN) XP_011510031.1:p.Asp30050Glu
XM_011511730.1:c.64044T>G (TTN) XP_011510032.1:p.Asp21348Glu
XM_011511731.1:c.63903T>G (TTN) XP_011510033.1:p.Asp21301Glu
XM_017004819.1:c.89946T>G (TTN) XP_016860308.1:p.Asp29982Glu
XM_017004820.1:c.85344T>G (TTN) XP_016860309.1:p.Asp28448Glu
XM_017004821.1:c.85341T>G (TTN) XP_016860310.1:p.Asp28447Glu
XM_017004822.1:c.82383T>G (TTN) XP_016860311.1:p.Asp27461Glu
XM_017004823.1:c.63999T>G (TTN) XP_016860312.1:p.Asp21333Glu
XM_024453094.1:c.85494T>G (TTN) XP_024308862.1:p.Asp28498Glu
XM_024453095.1:c.85491T>G (TTN) XP_024308863.1:p.Asp28497Glu
XM_024453096.1:c.84924T>G (TTN) XP_024308864.1:p.Asp28308Glu
XM_024453097.1:c.82266T>G (TTN) XP_024308865.1:p.Asp27422Glu
XM_024453098.1:c.82185T>G (TTN) XP_024308866.1:p.Asp27395Glu
XM_024453099.1:c.63948T>G (TTN) XP_024308867.1:p.Asp21316Glu
XM_024453100.1:c.53802T>G (TTN) XP_024308868.1:p.Asp17934Glu