Canonical Allele Identifier: CA349450882

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543886T>G , CM000664.2:g.178543886T>G GRCh38
NC_000002.11:g.179408613T>G , CM000664.1:g.179408613T>G GRCh37
NC_000002.10:g.179116859T>G NCBI36
NG_011618.3:g.291917A>C , LRG_391:g.291917A>C
NG_051363.1:g.26060T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88554A>C (TTN) ENSP00000343764.6:p.Glu29518Asp
ENST00000342175.11:c.69639A>C (TTN) ENSP00000340554.6:p.Glu23213Asp
ENST00000359218.10:c.69438A>C (TTN) ENSP00000352154.5:p.Glu23146Asp
ENST00000342175.10:c.69639A>C (TTN) ENSP00000340554.6:p.Glu23213Asp
ENST00000342992.10:c.88554A>C (TTN) ENSP00000343764.6:p.Glu29518Asp
ENST00000359218.9:c.69438A>C (TTN) ENSP00000352154.5:p.Glu23146Asp
ENST00000460472.6:c.69063A>C (TTN) ENSP00000434586.1:p.Glu23021Asp
ENST00000589042.5:c.96258A>C (TTN) MANE Select ENSP00000467141.1:p.Glu32086Asp
ENST00000591111.5:c.91335A>C (TTN) ENSP00000465570.1:p.Glu30445Asp
ENST00000615779.4:c.91335A>C (TTN) ENSP00000483597.1:p.Glu30445Asp
NM_001256850.1:c.91335A>C (TTN) NP_001243779.1:p.Glu30445Asp
NM_001267550.2:c.96258A>C (TTN) MANE Select NP_001254479.2:p.Glu32086Asp
NM_003319.4:c.69063A>C (TTN) NP_003310.4:p.Glu23021Asp
NM_133378.4:c.88554A>C (TTN) NP_596869.4:p.Glu29518Asp
NM_133432.3:c.69438A>C (TTN) NP_597676.3:p.Glu23146Asp
NM_133437.4:c.69639A>C (TTN) NP_597681.4:p.Glu23213Asp
NR_038271.1:n.446+20250T>G (TTN-AS1)
NR_038272.1:n.2043+1525T>G (TTN-AS1)
XM_011511729.1:c.95355A>C (TTN) XP_011510031.1:p.Glu31785Asp
XM_011511730.1:c.69249A>C (TTN) XP_011510032.1:p.Glu23083Asp
XM_011511731.1:c.69108A>C (TTN) XP_011510033.1:p.Glu23036Asp
XM_017004819.1:c.95151A>C (TTN) XP_016860308.1:p.Glu31717Asp
XM_017004820.1:c.90549A>C (TTN) XP_016860309.1:p.Glu30183Asp
XM_017004821.1:c.90546A>C (TTN) XP_016860310.1:p.Glu30182Asp
XM_017004822.1:c.87588A>C (TTN) XP_016860311.1:p.Glu29196Asp
XM_017004823.1:c.69204A>C (TTN) XP_016860312.1:p.Glu23068Asp
XM_024453094.1:c.90699A>C (TTN) XP_024308862.1:p.Glu30233Asp
XM_024453095.1:c.90696A>C (TTN) XP_024308863.1:p.Glu30232Asp
XM_024453096.1:c.90129A>C (TTN) XP_024308864.1:p.Glu30043Asp
XM_024453097.1:c.87471A>C (TTN) XP_024308865.1:p.Glu29157Asp
XM_024453098.1:c.87390A>C (TTN) XP_024308866.1:p.Glu29130Asp
XM_024453099.1:c.69153A>C (TTN) XP_024308867.1:p.Glu23051Asp
XM_024453100.1:c.59007A>C (TTN) XP_024308868.1:p.Glu19669Asp