Canonical Allele Identifier: CA349501147

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551061A>C , CM000664.2:g.178551061A>C GRCh38
NC_000002.11:g.179415788A>C , CM000664.1:g.179415788A>C GRCh37
NC_000002.10:g.179124034A>C NCBI36
NG_011618.3:g.284742T>G , LRG_391:g.284742T>G
NG_051363.1:g.33235A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83766T>G (TTN) ENSP00000343764.6:p.Asp27922Glu
ENST00000342175.11:c.64851T>G (TTN) ENSP00000340554.6:p.Asp21617Glu
ENST00000359218.10:c.64650T>G (TTN) ENSP00000352154.5:p.Asp21550Glu
ENST00000342175.10:c.64851T>G (TTN) ENSP00000340554.6:p.Asp21617Glu
ENST00000342992.10:c.83766T>G (TTN) ENSP00000343764.6:p.Asp27922Glu
ENST00000359218.9:c.64650T>G (TTN) ENSP00000352154.5:p.Asp21550Glu
ENST00000460472.6:c.64275T>G (TTN) ENSP00000434586.1:p.Asp21425Glu
ENST00000589042.5:c.91470T>G (TTN) MANE Select ENSP00000467141.1:p.Asp30490Glu
ENST00000591111.5:c.86547T>G (TTN) ENSP00000465570.1:p.Asp28849Glu
ENST00000615779.4:c.86547T>G (TTN) ENSP00000483597.1:p.Asp28849Glu
NM_001256850.1:c.86547T>G (TTN) NP_001243779.1:p.Asp28849Glu
NM_001267550.2:c.91470T>G (TTN) MANE Select NP_001254479.2:p.Asp30490Glu
NM_003319.4:c.64275T>G (TTN) NP_003310.4:p.Asp21425Glu
NM_133378.4:c.83766T>G (TTN) NP_596869.4:p.Asp27922Glu
NM_133432.3:c.64650T>G (TTN) NP_597676.3:p.Asp21550Glu
NM_133437.4:c.64851T>G (TTN) NP_597681.4:p.Asp21617Glu
NR_038271.1:n.447-20239A>C (TTN-AS1)
NR_038272.1:n.2043+8700A>C (TTN-AS1)
XM_011511729.1:c.90567T>G (TTN) XP_011510031.1:p.Asp30189Glu
XM_011511730.1:c.64461T>G (TTN) XP_011510032.1:p.Asp21487Glu
XM_011511731.1:c.64320T>G (TTN) XP_011510033.1:p.Asp21440Glu
XM_017004819.1:c.90363T>G (TTN) XP_016860308.1:p.Asp30121Glu
XM_017004820.1:c.85761T>G (TTN) XP_016860309.1:p.Asp28587Glu
XM_017004821.1:c.85758T>G (TTN) XP_016860310.1:p.Asp28586Glu
XM_017004822.1:c.82800T>G (TTN) XP_016860311.1:p.Asp27600Glu
XM_017004823.1:c.64416T>G (TTN) XP_016860312.1:p.Asp21472Glu
XM_024453094.1:c.85911T>G (TTN) XP_024308862.1:p.Asp28637Glu
XM_024453095.1:c.85908T>G (TTN) XP_024308863.1:p.Asp28636Glu
XM_024453096.1:c.85341T>G (TTN) XP_024308864.1:p.Asp28447Glu
XM_024453097.1:c.82683T>G (TTN) XP_024308865.1:p.Asp27561Glu
XM_024453098.1:c.82602T>G (TTN) XP_024308866.1:p.Asp27534Glu
XM_024453099.1:c.64365T>G (TTN) XP_024308867.1:p.Asp21455Glu
XM_024453100.1:c.54219T>G (TTN) XP_024308868.1:p.Asp18073Glu