Canonical Allele Identifier: CA349600874

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567282A>T , CM000664.2:g.178567282A>T GRCh38
NC_000002.11:g.179432009A>T , CM000664.1:g.179432009A>T GRCh37
NC_000002.10:g.179140255A>T NCBI36
NG_011618.3:g.268521T>A , LRG_391:g.268521T>A
NG_051363.1:g.49456A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.71146T>A (TTN) ENSP00000343764.6:p.Leu23716Ile
ENST00000342175.11:c.52231T>A (TTN) ENSP00000340554.6:p.Leu17411Ile
ENST00000359218.10:c.52030T>A (TTN) ENSP00000352154.5:p.Leu17344Ile
ENST00000342175.10:c.52231T>A (TTN) ENSP00000340554.6:p.Leu17411Ile
ENST00000342992.10:c.71146T>A (TTN) ENSP00000343764.6:p.Leu23716Ile
ENST00000359218.9:c.52030T>A (TTN) ENSP00000352154.5:p.Leu17344Ile
ENST00000460472.6:c.51655T>A (TTN) ENSP00000434586.1:p.Leu17219Ile
ENST00000589042.5:c.78850T>A (TTN) MANE Select ENSP00000467141.1:p.Leu26284Ile
ENST00000591111.5:c.73927T>A (TTN) ENSP00000465570.1:p.Leu24643Ile
ENST00000615779.4:c.73927T>A (TTN) ENSP00000483597.1:p.Leu24643Ile
NM_001256850.1:c.73927T>A (TTN) NP_001243779.1:p.Leu24643Ile
NM_001267550.2:c.78850T>A (TTN) MANE Select NP_001254479.2:p.Leu26284Ile
NM_003319.4:c.51655T>A (TTN) NP_003310.4:p.Leu17219Ile
NM_133378.4:c.71146T>A (TTN) NP_596869.4:p.Leu23716Ile
NM_133432.3:c.52030T>A (TTN) NP_597676.3:p.Leu17344Ile
NM_133437.4:c.52231T>A (TTN) NP_597681.4:p.Leu17411Ile
NR_038271.1:n.447-4018A>T (TTN-AS1)
NR_038272.1:n.2044-15290A>T (TTN-AS1)
XM_011511729.1:c.77947T>A (TTN) XP_011510031.1:p.Leu25983Ile
XM_011511730.1:c.51841T>A (TTN) XP_011510032.1:p.Leu17281Ile
XM_011511731.1:c.51700T>A (TTN) XP_011510033.1:p.Leu17234Ile
XM_017004819.1:c.77743T>A (TTN) XP_016860308.1:p.Leu25915Ile
XM_017004820.1:c.73141T>A (TTN) XP_016860309.1:p.Leu24381Ile
XM_017004821.1:c.73138T>A (TTN) XP_016860310.1:p.Leu24380Ile
XM_017004822.1:c.70180T>A (TTN) XP_016860311.1:p.Leu23394Ile
XM_017004823.1:c.51796T>A (TTN) XP_016860312.1:p.Leu17266Ile
XM_024453094.1:c.73291T>A (TTN) XP_024308862.1:p.Leu24431Ile
XM_024453095.1:c.73288T>A (TTN) XP_024308863.1:p.Leu24430Ile
XM_024453096.1:c.72721T>A (TTN) XP_024308864.1:p.Leu24241Ile
XM_024453097.1:c.70063T>A (TTN) XP_024308865.1:p.Leu23355Ile
XM_024453098.1:c.69982T>A (TTN) XP_024308866.1:p.Leu23328Ile
XM_024453099.1:c.51745T>A (TTN) XP_024308867.1:p.Leu17249Ile
XM_024453100.1:c.41599T>A (TTN) XP_024308868.1:p.Leu13867Ile