Canonical Allele Identifier: CA349503318

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551737C>T , CM000664.2:g.178551737C>T GRCh38
NC_000002.11:g.179416464C>T , CM000664.1:g.179416464C>T GRCh37
NC_000002.10:g.179124710C>T NCBI36
NG_011618.3:g.284066G>A , LRG_391:g.284066G>A
NG_051363.1:g.33911C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83459G>A (TTN) ENSP00000343764.6:p.Gly27820Glu
ENST00000342175.11:c.64544G>A (TTN) ENSP00000340554.6:p.Gly21515Glu
ENST00000359218.10:c.64343G>A (TTN) ENSP00000352154.5:p.Gly21448Glu
ENST00000342175.10:c.64544G>A (TTN) ENSP00000340554.6:p.Gly21515Glu
ENST00000342992.10:c.83459G>A (TTN) ENSP00000343764.6:p.Gly27820Glu
ENST00000359218.9:c.64343G>A (TTN) ENSP00000352154.5:p.Gly21448Glu
ENST00000460472.6:c.63968G>A (TTN) ENSP00000434586.1:p.Gly21323Glu
ENST00000589042.5:c.91163G>A (TTN) MANE Select ENSP00000467141.1:p.Gly30388Glu
ENST00000591111.5:c.86240G>A (TTN) ENSP00000465570.1:p.Gly28747Glu
ENST00000615779.4:c.86240G>A (TTN) ENSP00000483597.1:p.Gly28747Glu
NM_001256850.1:c.86240G>A (TTN) NP_001243779.1:p.Gly28747Glu
NM_001267550.2:c.91163G>A (TTN) MANE Select NP_001254479.2:p.Gly30388Glu
NM_003319.4:c.63968G>A (TTN) NP_003310.4:p.Gly21323Glu
NM_133378.4:c.83459G>A (TTN) NP_596869.4:p.Gly27820Glu
NM_133432.3:c.64343G>A (TTN) NP_597676.3:p.Gly21448Glu
NM_133437.4:c.64544G>A (TTN) NP_597681.4:p.Gly21515Glu
NR_038271.1:n.447-19563C>T (TTN-AS1)
NR_038272.1:n.2043+9376C>T (TTN-AS1)
XM_011511729.1:c.90260G>A (TTN) XP_011510031.1:p.Gly30087Glu
XM_011511730.1:c.64154G>A (TTN) XP_011510032.1:p.Gly21385Glu
XM_011511731.1:c.64013G>A (TTN) XP_011510033.1:p.Gly21338Glu
XM_017004819.1:c.90056G>A (TTN) XP_016860308.1:p.Gly30019Glu
XM_017004820.1:c.85454G>A (TTN) XP_016860309.1:p.Gly28485Glu
XM_017004821.1:c.85451G>A (TTN) XP_016860310.1:p.Gly28484Glu
XM_017004822.1:c.82493G>A (TTN) XP_016860311.1:p.Gly27498Glu
XM_017004823.1:c.64109G>A (TTN) XP_016860312.1:p.Gly21370Glu
XM_024453094.1:c.85604G>A (TTN) XP_024308862.1:p.Gly28535Glu
XM_024453095.1:c.85601G>A (TTN) XP_024308863.1:p.Gly28534Glu
XM_024453096.1:c.85034G>A (TTN) XP_024308864.1:p.Gly28345Glu
XM_024453097.1:c.82376G>A (TTN) XP_024308865.1:p.Gly27459Glu
XM_024453098.1:c.82295G>A (TTN) XP_024308866.1:p.Gly27432Glu
XM_024453099.1:c.64058G>A (TTN) XP_024308867.1:p.Gly21353Glu
XM_024453100.1:c.53912G>A (TTN) XP_024308868.1:p.Gly17971Glu