Canonical Allele Identifier: CA349411776

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532197T>A , CM000664.2:g.178532197T>A GRCh38
NC_000002.11:g.179396924T>A , CM000664.1:g.179396924T>A GRCh37
NC_000002.10:g.179105170T>A NCBI36
NG_011618.3:g.303606A>T , LRG_391:g.303606A>T
NG_051363.1:g.14371T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96714A>T (TTN) ENSP00000343764.6:p.Gln32238His
ENST00000342175.11:c.77799A>T (TTN) ENSP00000340554.6:p.Gln25933His
ENST00000359218.10:c.77598A>T (TTN) ENSP00000352154.5:p.Gln25866His
ENST00000342175.10:c.77799A>T (TTN) ENSP00000340554.6:p.Gln25933His
ENST00000342992.10:c.96714A>T (TTN) ENSP00000343764.6:p.Gln32238His
ENST00000359218.9:c.77598A>T (TTN) ENSP00000352154.5:p.Gln25866His
ENST00000460472.6:c.77223A>T (TTN) ENSP00000434586.1:p.Gln25741His
ENST00000589042.5:c.104418A>T (TTN) MANE Select ENSP00000467141.1:p.Gln34806His
ENST00000591111.5:c.99495A>T (TTN) ENSP00000465570.1:p.Gln33165His
ENST00000615779.4:c.99495A>T (TTN) ENSP00000483597.1:p.Gln33165His
NM_001256850.1:c.99495A>T (TTN) NP_001243779.1:p.Gln33165His
NM_001267550.2:c.104418A>T (TTN) MANE Select NP_001254479.2:p.Gln34806His
NM_003319.4:c.77223A>T (TTN) NP_003310.4:p.Gln25741His
NM_133378.4:c.96714A>T (TTN) NP_596869.4:p.Gln32238His
NM_133432.3:c.77598A>T (TTN) NP_597676.3:p.Gln25866His
NM_133437.4:c.77799A>T (TTN) NP_597681.4:p.Gln25933His
NR_038271.1:n.446+8561T>A (TTN-AS1)
NR_038272.1:n.220-3535T>A (TTN-AS1)
XM_011511729.1:c.103515A>T (TTN) XP_011510031.1:p.Gln34505His
XM_011511730.1:c.77409A>T (TTN) XP_011510032.1:p.Gln25803His
XM_011511731.1:c.77268A>T (TTN) XP_011510033.1:p.Gln25756His
XM_017004819.1:c.103311A>T (TTN) XP_016860308.1:p.Gln34437His
XM_017004820.1:c.98709A>T (TTN) XP_016860309.1:p.Gln32903His
XM_017004821.1:c.98706A>T (TTN) XP_016860310.1:p.Gln32902His
XM_017004822.1:c.95748A>T (TTN) XP_016860311.1:p.Gln31916His
XM_017004823.1:c.77364A>T (TTN) XP_016860312.1:p.Gln25788His
XM_024453094.1:c.98859A>T (TTN) XP_024308862.1:p.Gln32953His
XM_024453095.1:c.98856A>T (TTN) XP_024308863.1:p.Gln32952His
XM_024453096.1:c.98289A>T (TTN) XP_024308864.1:p.Gln32763His
XM_024453097.1:c.95631A>T (TTN) XP_024308865.1:p.Gln31877His
XM_024453098.1:c.95550A>T (TTN) XP_024308866.1:p.Gln31850His
XM_024453099.1:c.77313A>T (TTN) XP_024308867.1:p.Gln25771His
XM_024453100.1:c.67167A>T (TTN) XP_024308868.1:p.Gln22389His