Canonical Allele Identifier: CA349502771

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551666C>G , CM000664.2:g.178551666C>G GRCh38
NC_000002.11:g.179416393C>G , CM000664.1:g.179416393C>G GRCh37
NC_000002.10:g.179124639C>G NCBI36
NG_011618.3:g.284137G>C , LRG_391:g.284137G>C
NG_051363.1:g.33840C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83530G>C (TTN) ENSP00000343764.6:p.Asp27844His
ENST00000342175.11:c.64615G>C (TTN) ENSP00000340554.6:p.Asp21539His
ENST00000359218.10:c.64414G>C (TTN) ENSP00000352154.5:p.Asp21472His
ENST00000342175.10:c.64615G>C (TTN) ENSP00000340554.6:p.Asp21539His
ENST00000342992.10:c.83530G>C (TTN) ENSP00000343764.6:p.Asp27844His
ENST00000359218.9:c.64414G>C (TTN) ENSP00000352154.5:p.Asp21472His
ENST00000460472.6:c.64039G>C (TTN) ENSP00000434586.1:p.Asp21347His
ENST00000589042.5:c.91234G>C (TTN) MANE Select ENSP00000467141.1:p.Asp30412His
ENST00000591111.5:c.86311G>C (TTN) ENSP00000465570.1:p.Asp28771His
ENST00000615779.4:c.86311G>C (TTN) ENSP00000483597.1:p.Asp28771His
NM_001256850.1:c.86311G>C (TTN) NP_001243779.1:p.Asp28771His
NM_001267550.2:c.91234G>C (TTN) MANE Select NP_001254479.2:p.Asp30412His
NM_003319.4:c.64039G>C (TTN) NP_003310.4:p.Asp21347His
NM_133378.4:c.83530G>C (TTN) NP_596869.4:p.Asp27844His
NM_133432.3:c.64414G>C (TTN) NP_597676.3:p.Asp21472His
NM_133437.4:c.64615G>C (TTN) NP_597681.4:p.Asp21539His
NR_038271.1:n.447-19634C>G (TTN-AS1)
NR_038272.1:n.2043+9305C>G (TTN-AS1)
XM_011511729.1:c.90331G>C (TTN) XP_011510031.1:p.Asp30111His
XM_011511730.1:c.64225G>C (TTN) XP_011510032.1:p.Asp21409His
XM_011511731.1:c.64084G>C (TTN) XP_011510033.1:p.Asp21362His
XM_017004819.1:c.90127G>C (TTN) XP_016860308.1:p.Asp30043His
XM_017004820.1:c.85525G>C (TTN) XP_016860309.1:p.Asp28509His
XM_017004821.1:c.85522G>C (TTN) XP_016860310.1:p.Asp28508His
XM_017004822.1:c.82564G>C (TTN) XP_016860311.1:p.Asp27522His
XM_017004823.1:c.64180G>C (TTN) XP_016860312.1:p.Asp21394His
XM_024453094.1:c.85675G>C (TTN) XP_024308862.1:p.Asp28559His
XM_024453095.1:c.85672G>C (TTN) XP_024308863.1:p.Asp28558His
XM_024453096.1:c.85105G>C (TTN) XP_024308864.1:p.Asp28369His
XM_024453097.1:c.82447G>C (TTN) XP_024308865.1:p.Asp27483His
XM_024453098.1:c.82366G>C (TTN) XP_024308866.1:p.Asp27456His
XM_024453099.1:c.64129G>C (TTN) XP_024308867.1:p.Asp21377His
XM_024453100.1:c.53983G>C (TTN) XP_024308868.1:p.Asp17995His