Canonical Allele Identifier: CA349411881

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532242G>T , CM000664.2:g.178532242G>T GRCh38
NC_000002.11:g.179396969G>T , CM000664.1:g.179396969G>T GRCh37
NC_000002.10:g.179105215G>T NCBI36
NG_011618.3:g.303561C>A , LRG_391:g.303561C>A
NG_051363.1:g.14416G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96669C>A (TTN) ENSP00000343764.6:p.Asp32223Glu
ENST00000342175.11:c.77754C>A (TTN) ENSP00000340554.6:p.Asp25918Glu
ENST00000359218.10:c.77553C>A (TTN) ENSP00000352154.5:p.Asp25851Glu
ENST00000342175.10:c.77754C>A (TTN) ENSP00000340554.6:p.Asp25918Glu
ENST00000342992.10:c.96669C>A (TTN) ENSP00000343764.6:p.Asp32223Glu
ENST00000359218.9:c.77553C>A (TTN) ENSP00000352154.5:p.Asp25851Glu
ENST00000460472.6:c.77178C>A (TTN) ENSP00000434586.1:p.Asp25726Glu
ENST00000589042.5:c.104373C>A (TTN) MANE Select ENSP00000467141.1:p.Asp34791Glu
ENST00000591111.5:c.99450C>A (TTN) ENSP00000465570.1:p.Asp33150Glu
ENST00000615779.4:c.99450C>A (TTN) ENSP00000483597.1:p.Asp33150Glu
NM_001256850.1:c.99450C>A (TTN) NP_001243779.1:p.Asp33150Glu
NM_001267550.2:c.104373C>A (TTN) MANE Select NP_001254479.2:p.Asp34791Glu
NM_003319.4:c.77178C>A (TTN) NP_003310.4:p.Asp25726Glu
NM_133378.4:c.96669C>A (TTN) NP_596869.4:p.Asp32223Glu
NM_133432.3:c.77553C>A (TTN) NP_597676.3:p.Asp25851Glu
NM_133437.4:c.77754C>A (TTN) NP_597681.4:p.Asp25918Glu
NR_038271.1:n.446+8606G>T (TTN-AS1)
NR_038272.1:n.220-3490G>T (TTN-AS1)
XM_011511729.1:c.103470C>A (TTN) XP_011510031.1:p.Asp34490Glu
XM_011511730.1:c.77364C>A (TTN) XP_011510032.1:p.Asp25788Glu
XM_011511731.1:c.77223C>A (TTN) XP_011510033.1:p.Asp25741Glu
XM_017004819.1:c.103266C>A (TTN) XP_016860308.1:p.Asp34422Glu
XM_017004820.1:c.98664C>A (TTN) XP_016860309.1:p.Asp32888Glu
XM_017004821.1:c.98661C>A (TTN) XP_016860310.1:p.Asp32887Glu
XM_017004822.1:c.95703C>A (TTN) XP_016860311.1:p.Asp31901Glu
XM_017004823.1:c.77319C>A (TTN) XP_016860312.1:p.Asp25773Glu
XM_024453094.1:c.98814C>A (TTN) XP_024308862.1:p.Asp32938Glu
XM_024453095.1:c.98811C>A (TTN) XP_024308863.1:p.Asp32937Glu
XM_024453096.1:c.98244C>A (TTN) XP_024308864.1:p.Asp32748Glu
XM_024453097.1:c.95586C>A (TTN) XP_024308865.1:p.Asp31862Glu
XM_024453098.1:c.95505C>A (TTN) XP_024308866.1:p.Asp31835Glu
XM_024453099.1:c.77268C>A (TTN) XP_024308867.1:p.Asp25756Glu
XM_024453100.1:c.67122C>A (TTN) XP_024308868.1:p.Asp22374Glu