Canonical Allele Identifier: CA349489003

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548656A>T , CM000664.2:g.178548656A>T GRCh38
NC_000002.11:g.179413383A>T , CM000664.1:g.179413383A>T GRCh37
NC_000002.10:g.179121629A>T NCBI36
NG_011618.3:g.287147T>A , LRG_391:g.287147T>A
NG_051363.1:g.30830A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85266T>A (TTN) ENSP00000343764.6:p.Asp28422Glu
ENST00000342175.11:c.66351T>A (TTN) ENSP00000340554.6:p.Asp22117Glu
ENST00000359218.10:c.66150T>A (TTN) ENSP00000352154.5:p.Asp22050Glu
ENST00000342175.10:c.66351T>A (TTN) ENSP00000340554.6:p.Asp22117Glu
ENST00000342992.10:c.85266T>A (TTN) ENSP00000343764.6:p.Asp28422Glu
ENST00000359218.9:c.66150T>A (TTN) ENSP00000352154.5:p.Asp22050Glu
ENST00000460472.6:c.65775T>A (TTN) ENSP00000434586.1:p.Asp21925Glu
ENST00000589042.5:c.92970T>A (TTN) MANE Select ENSP00000467141.1:p.Asp30990Glu
ENST00000591111.5:c.88047T>A (TTN) ENSP00000465570.1:p.Asp29349Glu
ENST00000615779.4:c.88047T>A (TTN) ENSP00000483597.1:p.Asp29349Glu
NM_001256850.1:c.88047T>A (TTN) NP_001243779.1:p.Asp29349Glu
NM_001267550.2:c.92970T>A (TTN) MANE Select NP_001254479.2:p.Asp30990Glu
NM_003319.4:c.65775T>A (TTN) NP_003310.4:p.Asp21925Glu
NM_133378.4:c.85266T>A (TTN) NP_596869.4:p.Asp28422Glu
NM_133432.3:c.66150T>A (TTN) NP_597676.3:p.Asp22050Glu
NM_133437.4:c.66351T>A (TTN) NP_597681.4:p.Asp22117Glu
NR_038271.1:n.447-22644A>T (TTN-AS1)
NR_038272.1:n.2043+6295A>T (TTN-AS1)
XM_011511729.1:c.92067T>A (TTN) XP_011510031.1:p.Asp30689Glu
XM_011511730.1:c.65961T>A (TTN) XP_011510032.1:p.Asp21987Glu
XM_011511731.1:c.65820T>A (TTN) XP_011510033.1:p.Asp21940Glu
XM_017004819.1:c.91863T>A (TTN) XP_016860308.1:p.Asp30621Glu
XM_017004820.1:c.87261T>A (TTN) XP_016860309.1:p.Asp29087Glu
XM_017004821.1:c.87258T>A (TTN) XP_016860310.1:p.Asp29086Glu
XM_017004822.1:c.84300T>A (TTN) XP_016860311.1:p.Asp28100Glu
XM_017004823.1:c.65916T>A (TTN) XP_016860312.1:p.Asp21972Glu
XM_024453094.1:c.87411T>A (TTN) XP_024308862.1:p.Asp29137Glu
XM_024453095.1:c.87408T>A (TTN) XP_024308863.1:p.Asp29136Glu
XM_024453096.1:c.86841T>A (TTN) XP_024308864.1:p.Asp28947Glu
XM_024453097.1:c.84183T>A (TTN) XP_024308865.1:p.Asp28061Glu
XM_024453098.1:c.84102T>A (TTN) XP_024308866.1:p.Asp28034Glu
XM_024453099.1:c.65865T>A (TTN) XP_024308867.1:p.Asp21955Glu
XM_024453100.1:c.55719T>A (TTN) XP_024308868.1:p.Asp18573Glu