Canonical Allele Identifier: CA349496301

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549848C>T , CM000664.2:g.178549848C>T GRCh38
NC_000002.11:g.179414575C>T , CM000664.1:g.179414575C>T GRCh37
NC_000002.10:g.179122821C>T NCBI36
NG_011618.3:g.285955G>A , LRG_391:g.285955G>A
NG_051363.1:g.32022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84170G>A (TTN) ENSP00000343764.6:p.Gly28057Glu
ENST00000342175.11:c.65255G>A (TTN) ENSP00000340554.6:p.Gly21752Glu
ENST00000359218.10:c.65054G>A (TTN) ENSP00000352154.5:p.Gly21685Glu
ENST00000342175.10:c.65255G>A (TTN) ENSP00000340554.6:p.Gly21752Glu
ENST00000342992.10:c.84170G>A (TTN) ENSP00000343764.6:p.Gly28057Glu
ENST00000359218.9:c.65054G>A (TTN) ENSP00000352154.5:p.Gly21685Glu
ENST00000460472.6:c.64679G>A (TTN) ENSP00000434586.1:p.Gly21560Glu
ENST00000589042.5:c.91874G>A (TTN) MANE Select ENSP00000467141.1:p.Gly30625Glu
ENST00000591111.5:c.86951G>A (TTN) ENSP00000465570.1:p.Gly28984Glu
ENST00000615779.4:c.86951G>A (TTN) ENSP00000483597.1:p.Gly28984Glu
NM_001256850.1:c.86951G>A (TTN) NP_001243779.1:p.Gly28984Glu
NM_001267550.2:c.91874G>A (TTN) MANE Select NP_001254479.2:p.Gly30625Glu
NM_003319.4:c.64679G>A (TTN) NP_003310.4:p.Gly21560Glu
NM_133378.4:c.84170G>A (TTN) NP_596869.4:p.Gly28057Glu
NM_133432.3:c.65054G>A (TTN) NP_597676.3:p.Gly21685Glu
NM_133437.4:c.65255G>A (TTN) NP_597681.4:p.Gly21752Glu
NR_038271.1:n.447-21452C>T (TTN-AS1)
NR_038272.1:n.2043+7487C>T (TTN-AS1)
XM_011511729.1:c.90971G>A (TTN) XP_011510031.1:p.Gly30324Glu
XM_011511730.1:c.64865G>A (TTN) XP_011510032.1:p.Gly21622Glu
XM_011511731.1:c.64724G>A (TTN) XP_011510033.1:p.Gly21575Glu
XM_017004819.1:c.90767G>A (TTN) XP_016860308.1:p.Gly30256Glu
XM_017004820.1:c.86165G>A (TTN) XP_016860309.1:p.Gly28722Glu
XM_017004821.1:c.86162G>A (TTN) XP_016860310.1:p.Gly28721Glu
XM_017004822.1:c.83204G>A (TTN) XP_016860311.1:p.Gly27735Glu
XM_017004823.1:c.64820G>A (TTN) XP_016860312.1:p.Gly21607Glu
XM_024453094.1:c.86315G>A (TTN) XP_024308862.1:p.Gly28772Glu
XM_024453095.1:c.86312G>A (TTN) XP_024308863.1:p.Gly28771Glu
XM_024453096.1:c.85745G>A (TTN) XP_024308864.1:p.Gly28582Glu
XM_024453097.1:c.83087G>A (TTN) XP_024308865.1:p.Gly27696Glu
XM_024453098.1:c.83006G>A (TTN) XP_024308866.1:p.Gly27669Glu
XM_024453099.1:c.64769G>A (TTN) XP_024308867.1:p.Gly21590Glu
XM_024453100.1:c.54623G>A (TTN) XP_024308868.1:p.Gly18208Glu