Canonical Allele Identifier: CA349407062

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530528C>A , CM000664.2:g.178530528C>A GRCh38
NC_000002.11:g.179395255C>A , CM000664.1:g.179395255C>A GRCh37
NC_000002.10:g.179103501C>A NCBI36
NG_011618.3:g.305275G>T , LRG_391:g.305275G>T
NG_051363.1:g.12702C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98383G>T (TTN) ENSP00000343764.6:p.Gly32795Cys
ENST00000342175.11:c.79468G>T (TTN) ENSP00000340554.6:p.Gly26490Cys
ENST00000359218.10:c.79267G>T (TTN) ENSP00000352154.5:p.Gly26423Cys
ENST00000342175.10:c.79468G>T (TTN) ENSP00000340554.6:p.Gly26490Cys
ENST00000342992.10:c.98383G>T (TTN) ENSP00000343764.6:p.Gly32795Cys
ENST00000359218.9:c.79267G>T (TTN) ENSP00000352154.5:p.Gly26423Cys
ENST00000460472.6:c.78892G>T (TTN) ENSP00000434586.1:p.Gly26298Cys
ENST00000589042.5:c.106087G>T (TTN) MANE Select ENSP00000467141.1:p.Gly35363Cys
ENST00000591111.5:c.101164G>T (TTN) ENSP00000465570.1:p.Gly33722Cys
ENST00000615779.4:c.101164G>T (TTN) ENSP00000483597.1:p.Gly33722Cys
NM_001256850.1:c.101164G>T (TTN) NP_001243779.1:p.Gly33722Cys
NM_001267550.2:c.106087G>T (TTN) MANE Select NP_001254479.2:p.Gly35363Cys
NM_003319.4:c.78892G>T (TTN) NP_003310.4:p.Gly26298Cys
NM_133378.4:c.98383G>T (TTN) NP_596869.4:p.Gly32795Cys
NM_133432.3:c.79267G>T (TTN) NP_597676.3:p.Gly26423Cys
NM_133437.4:c.79468G>T (TTN) NP_597681.4:p.Gly26490Cys
NR_038271.1:n.446+6892C>A (TTN-AS1)
NR_038272.1:n.220-5204C>A (TTN-AS1)
XM_011511729.1:c.105184G>T (TTN) XP_011510031.1:p.Gly35062Cys
XM_011511730.1:c.79078G>T (TTN) XP_011510032.1:p.Gly26360Cys
XM_011511731.1:c.78937G>T (TTN) XP_011510033.1:p.Gly26313Cys
XM_017004819.1:c.104980G>T (TTN) XP_016860308.1:p.Gly34994Cys
XM_017004820.1:c.100378G>T (TTN) XP_016860309.1:p.Gly33460Cys
XM_017004821.1:c.100375G>T (TTN) XP_016860310.1:p.Gly33459Cys
XM_017004822.1:c.97417G>T (TTN) XP_016860311.1:p.Gly32473Cys
XM_017004823.1:c.79033G>T (TTN) XP_016860312.1:p.Gly26345Cys
XM_024453094.1:c.100528G>T (TTN) XP_024308862.1:p.Gly33510Cys
XM_024453095.1:c.100525G>T (TTN) XP_024308863.1:p.Gly33509Cys
XM_024453096.1:c.99958G>T (TTN) XP_024308864.1:p.Gly33320Cys
XM_024453097.1:c.97300G>T (TTN) XP_024308865.1:p.Gly32434Cys
XM_024453098.1:c.97219G>T (TTN) XP_024308866.1:p.Gly32407Cys
XM_024453099.1:c.78982G>T (TTN) XP_024308867.1:p.Gly26328Cys
XM_024453100.1:c.68836G>T (TTN) XP_024308868.1:p.Gly22946Cys