Canonical Allele Identifier: CA349471594

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546771C>G , CM000664.2:g.178546771C>G GRCh38
NC_000002.11:g.179411498C>G , CM000664.1:g.179411498C>G GRCh37
NC_000002.10:g.179119744C>G NCBI36
NG_011618.3:g.289032G>C , LRG_391:g.289032G>C
NG_051363.1:g.28945C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86953G>C (TTN) ENSP00000343764.6:p.Asp28985His
ENST00000342175.11:c.68038G>C (TTN) ENSP00000340554.6:p.Asp22680His
ENST00000359218.10:c.67837G>C (TTN) ENSP00000352154.5:p.Asp22613His
ENST00000342175.10:c.68038G>C (TTN) ENSP00000340554.6:p.Asp22680His
ENST00000342992.10:c.86953G>C (TTN) ENSP00000343764.6:p.Asp28985His
ENST00000359218.9:c.67837G>C (TTN) ENSP00000352154.5:p.Asp22613His
ENST00000460472.6:c.67462G>C (TTN) ENSP00000434586.1:p.Asp22488His
ENST00000589042.5:c.94657G>C (TTN) MANE Select ENSP00000467141.1:p.Asp31553His
ENST00000591111.5:c.89734G>C (TTN) ENSP00000465570.1:p.Asp29912His
ENST00000615779.4:c.89734G>C (TTN) ENSP00000483597.1:p.Asp29912His
NM_001256850.1:c.89734G>C (TTN) NP_001243779.1:p.Asp29912His
NM_001267550.2:c.94657G>C (TTN) MANE Select NP_001254479.2:p.Asp31553His
NM_003319.4:c.67462G>C (TTN) NP_003310.4:p.Asp22488His
NM_133378.4:c.86953G>C (TTN) NP_596869.4:p.Asp28985His
NM_133432.3:c.67837G>C (TTN) NP_597676.3:p.Asp22613His
NM_133437.4:c.68038G>C (TTN) NP_597681.4:p.Asp22680His
NR_038271.1:n.446+23135C>G (TTN-AS1)
NR_038272.1:n.2043+4410C>G (TTN-AS1)
XM_011511729.1:c.93754G>C (TTN) XP_011510031.1:p.Asp31252His
XM_011511730.1:c.67648G>C (TTN) XP_011510032.1:p.Asp22550His
XM_011511731.1:c.67507G>C (TTN) XP_011510033.1:p.Asp22503His
XM_017004819.1:c.93550G>C (TTN) XP_016860308.1:p.Asp31184His
XM_017004820.1:c.88948G>C (TTN) XP_016860309.1:p.Asp29650His
XM_017004821.1:c.88945G>C (TTN) XP_016860310.1:p.Asp29649His
XM_017004822.1:c.85987G>C (TTN) XP_016860311.1:p.Asp28663His
XM_017004823.1:c.67603G>C (TTN) XP_016860312.1:p.Asp22535His
XM_024453094.1:c.89098G>C (TTN) XP_024308862.1:p.Asp29700His
XM_024453095.1:c.89095G>C (TTN) XP_024308863.1:p.Asp29699His
XM_024453096.1:c.88528G>C (TTN) XP_024308864.1:p.Asp29510His
XM_024453097.1:c.85870G>C (TTN) XP_024308865.1:p.Asp28624His
XM_024453098.1:c.85789G>C (TTN) XP_024308866.1:p.Asp28597His
XM_024453099.1:c.67552G>C (TTN) XP_024308867.1:p.Asp22518His
XM_024453100.1:c.57406G>C (TTN) XP_024308868.1:p.Asp19136His