Canonical Allele Identifier: CA349407137

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530563T>C , CM000664.2:g.178530563T>C GRCh38
NC_000002.11:g.179395290T>C , CM000664.1:g.179395290T>C GRCh37
NC_000002.10:g.179103536T>C NCBI36
NG_011618.3:g.305240A>G , LRG_391:g.305240A>G
NG_051363.1:g.12737T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98348A>G (TTN) ENSP00000343764.6:p.Glu32783Gly
ENST00000342175.11:c.79433A>G (TTN) ENSP00000340554.6:p.Glu26478Gly
ENST00000359218.10:c.79232A>G (TTN) ENSP00000352154.5:p.Glu26411Gly
ENST00000342175.10:c.79433A>G (TTN) ENSP00000340554.6:p.Glu26478Gly
ENST00000342992.10:c.98348A>G (TTN) ENSP00000343764.6:p.Glu32783Gly
ENST00000359218.9:c.79232A>G (TTN) ENSP00000352154.5:p.Glu26411Gly
ENST00000460472.6:c.78857A>G (TTN) ENSP00000434586.1:p.Glu26286Gly
ENST00000589042.5:c.106052A>G (TTN) MANE Select ENSP00000467141.1:p.Glu35351Gly
ENST00000591111.5:c.101129A>G (TTN) ENSP00000465570.1:p.Glu33710Gly
ENST00000615779.4:c.101129A>G (TTN) ENSP00000483597.1:p.Glu33710Gly
NM_001256850.1:c.101129A>G (TTN) NP_001243779.1:p.Glu33710Gly
NM_001267550.2:c.106052A>G (TTN) MANE Select NP_001254479.2:p.Glu35351Gly
NM_003319.4:c.78857A>G (TTN) NP_003310.4:p.Glu26286Gly
NM_133378.4:c.98348A>G (TTN) NP_596869.4:p.Glu32783Gly
NM_133432.3:c.79232A>G (TTN) NP_597676.3:p.Glu26411Gly
NM_133437.4:c.79433A>G (TTN) NP_597681.4:p.Glu26478Gly
NR_038271.1:n.446+6927T>C (TTN-AS1)
NR_038272.1:n.220-5169T>C (TTN-AS1)
XM_011511729.1:c.105149A>G (TTN) XP_011510031.1:p.Glu35050Gly
XM_011511730.1:c.79043A>G (TTN) XP_011510032.1:p.Glu26348Gly
XM_011511731.1:c.78902A>G (TTN) XP_011510033.1:p.Glu26301Gly
XM_017004819.1:c.104945A>G (TTN) XP_016860308.1:p.Glu34982Gly
XM_017004820.1:c.100343A>G (TTN) XP_016860309.1:p.Glu33448Gly
XM_017004821.1:c.100340A>G (TTN) XP_016860310.1:p.Glu33447Gly
XM_017004822.1:c.97382A>G (TTN) XP_016860311.1:p.Glu32461Gly
XM_017004823.1:c.78998A>G (TTN) XP_016860312.1:p.Glu26333Gly
XM_024453094.1:c.100493A>G (TTN) XP_024308862.1:p.Glu33498Gly
XM_024453095.1:c.100490A>G (TTN) XP_024308863.1:p.Glu33497Gly
XM_024453096.1:c.99923A>G (TTN) XP_024308864.1:p.Glu33308Gly
XM_024453097.1:c.97265A>G (TTN) XP_024308865.1:p.Glu32422Gly
XM_024453098.1:c.97184A>G (TTN) XP_024308866.1:p.Glu32395Gly
XM_024453099.1:c.78947A>G (TTN) XP_024308867.1:p.Glu26316Gly
XM_024453100.1:c.68801A>G (TTN) XP_024308868.1:p.Glu22934Gly