Canonical Allele Identifier: CA349471587

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546770T>G , CM000664.2:g.178546770T>G GRCh38
NC_000002.11:g.179411497T>G , CM000664.1:g.179411497T>G GRCh37
NC_000002.10:g.179119743T>G NCBI36
NG_011618.3:g.289033A>C , LRG_391:g.289033A>C
NG_051363.1:g.28944T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86954A>C (TTN) ENSP00000343764.6:p.Asp28985Ala
ENST00000342175.11:c.68039A>C (TTN) ENSP00000340554.6:p.Asp22680Ala
ENST00000359218.10:c.67838A>C (TTN) ENSP00000352154.5:p.Asp22613Ala
ENST00000342175.10:c.68039A>C (TTN) ENSP00000340554.6:p.Asp22680Ala
ENST00000342992.10:c.86954A>C (TTN) ENSP00000343764.6:p.Asp28985Ala
ENST00000359218.9:c.67838A>C (TTN) ENSP00000352154.5:p.Asp22613Ala
ENST00000460472.6:c.67463A>C (TTN) ENSP00000434586.1:p.Asp22488Ala
ENST00000589042.5:c.94658A>C (TTN) MANE Select ENSP00000467141.1:p.Asp31553Ala
ENST00000591111.5:c.89735A>C (TTN) ENSP00000465570.1:p.Asp29912Ala
ENST00000615779.4:c.89735A>C (TTN) ENSP00000483597.1:p.Asp29912Ala
NM_001256850.1:c.89735A>C (TTN) NP_001243779.1:p.Asp29912Ala
NM_001267550.2:c.94658A>C (TTN) MANE Select NP_001254479.2:p.Asp31553Ala
NM_003319.4:c.67463A>C (TTN) NP_003310.4:p.Asp22488Ala
NM_133378.4:c.86954A>C (TTN) NP_596869.4:p.Asp28985Ala
NM_133432.3:c.67838A>C (TTN) NP_597676.3:p.Asp22613Ala
NM_133437.4:c.68039A>C (TTN) NP_597681.4:p.Asp22680Ala
NR_038271.1:n.446+23134T>G (TTN-AS1)
NR_038272.1:n.2043+4409T>G (TTN-AS1)
XM_011511729.1:c.93755A>C (TTN) XP_011510031.1:p.Asp31252Ala
XM_011511730.1:c.67649A>C (TTN) XP_011510032.1:p.Asp22550Ala
XM_011511731.1:c.67508A>C (TTN) XP_011510033.1:p.Asp22503Ala
XM_017004819.1:c.93551A>C (TTN) XP_016860308.1:p.Asp31184Ala
XM_017004820.1:c.88949A>C (TTN) XP_016860309.1:p.Asp29650Ala
XM_017004821.1:c.88946A>C (TTN) XP_016860310.1:p.Asp29649Ala
XM_017004822.1:c.85988A>C (TTN) XP_016860311.1:p.Asp28663Ala
XM_017004823.1:c.67604A>C (TTN) XP_016860312.1:p.Asp22535Ala
XM_024453094.1:c.89099A>C (TTN) XP_024308862.1:p.Asp29700Ala
XM_024453095.1:c.89096A>C (TTN) XP_024308863.1:p.Asp29699Ala
XM_024453096.1:c.88529A>C (TTN) XP_024308864.1:p.Asp29510Ala
XM_024453097.1:c.85871A>C (TTN) XP_024308865.1:p.Asp28624Ala
XM_024453098.1:c.85790A>C (TTN) XP_024308866.1:p.Asp28597Ala
XM_024453099.1:c.67553A>C (TTN) XP_024308867.1:p.Asp22518Ala
XM_024453100.1:c.57407A>C (TTN) XP_024308868.1:p.Asp19136Ala