Canonical Allele Identifier: CA349450738

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543876G>C , CM000664.2:g.178543876G>C GRCh38
NC_000002.11:g.179408603G>C , CM000664.1:g.179408603G>C GRCh37
NC_000002.10:g.179116849G>C NCBI36
NG_011618.3:g.291927C>G , LRG_391:g.291927C>G
NG_051363.1:g.26050G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88564C>G (TTN) ENSP00000343764.6:p.Gln29522Glu
ENST00000342175.11:c.69649C>G (TTN) ENSP00000340554.6:p.Gln23217Glu
ENST00000359218.10:c.69448C>G (TTN) ENSP00000352154.5:p.Gln23150Glu
ENST00000342175.10:c.69649C>G (TTN) ENSP00000340554.6:p.Gln23217Glu
ENST00000342992.10:c.88564C>G (TTN) ENSP00000343764.6:p.Gln29522Glu
ENST00000359218.9:c.69448C>G (TTN) ENSP00000352154.5:p.Gln23150Glu
ENST00000460472.6:c.69073C>G (TTN) ENSP00000434586.1:p.Gln23025Glu
ENST00000589042.5:c.96268C>G (TTN) MANE Select ENSP00000467141.1:p.Gln32090Glu
ENST00000591111.5:c.91345C>G (TTN) ENSP00000465570.1:p.Gln30449Glu
ENST00000615779.4:c.91345C>G (TTN) ENSP00000483597.1:p.Gln30449Glu
NM_001256850.1:c.91345C>G (TTN) NP_001243779.1:p.Gln30449Glu
NM_001267550.2:c.96268C>G (TTN) MANE Select NP_001254479.2:p.Gln32090Glu
NM_003319.4:c.69073C>G (TTN) NP_003310.4:p.Gln23025Glu
NM_133378.4:c.88564C>G (TTN) NP_596869.4:p.Gln29522Glu
NM_133432.3:c.69448C>G (TTN) NP_597676.3:p.Gln23150Glu
NM_133437.4:c.69649C>G (TTN) NP_597681.4:p.Gln23217Glu
NR_038271.1:n.446+20240G>C (TTN-AS1)
NR_038272.1:n.2043+1515G>C (TTN-AS1)
XM_011511729.1:c.95365C>G (TTN) XP_011510031.1:p.Gln31789Glu
XM_011511730.1:c.69259C>G (TTN) XP_011510032.1:p.Gln23087Glu
XM_011511731.1:c.69118C>G (TTN) XP_011510033.1:p.Gln23040Glu
XM_017004819.1:c.95161C>G (TTN) XP_016860308.1:p.Gln31721Glu
XM_017004820.1:c.90559C>G (TTN) XP_016860309.1:p.Gln30187Glu
XM_017004821.1:c.90556C>G (TTN) XP_016860310.1:p.Gln30186Glu
XM_017004822.1:c.87598C>G (TTN) XP_016860311.1:p.Gln29200Glu
XM_017004823.1:c.69214C>G (TTN) XP_016860312.1:p.Gln23072Glu
XM_024453094.1:c.90709C>G (TTN) XP_024308862.1:p.Gln30237Glu
XM_024453095.1:c.90706C>G (TTN) XP_024308863.1:p.Gln30236Glu
XM_024453096.1:c.90139C>G (TTN) XP_024308864.1:p.Gln30047Glu
XM_024453097.1:c.87481C>G (TTN) XP_024308865.1:p.Gln29161Glu
XM_024453098.1:c.87400C>G (TTN) XP_024308866.1:p.Gln29134Glu
XM_024453099.1:c.69163C>G (TTN) XP_024308867.1:p.Gln23055Glu
XM_024453100.1:c.59017C>G (TTN) XP_024308868.1:p.Gln19673Glu