Canonical Allele Identifier: CA349516193

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553140T>A , CM000664.2:g.178553140T>A GRCh38
NC_000002.11:g.179417867T>A , CM000664.1:g.179417867T>A GRCh37
NC_000002.10:g.179126113T>A NCBI36
NG_011618.3:g.282663A>T , LRG_391:g.282663A>T
NG_051363.1:g.35314T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.82056A>T (TTN) ENSP00000343764.6:p.Glu27352Asp
ENST00000342175.11:c.63141A>T (TTN) ENSP00000340554.6:p.Glu21047Asp
ENST00000359218.10:c.62940A>T (TTN) ENSP00000352154.5:p.Glu20980Asp
ENST00000342175.10:c.63141A>T (TTN) ENSP00000340554.6:p.Glu21047Asp
ENST00000342992.10:c.82056A>T (TTN) ENSP00000343764.6:p.Glu27352Asp
ENST00000359218.9:c.62940A>T (TTN) ENSP00000352154.5:p.Glu20980Asp
ENST00000460472.6:c.62565A>T (TTN) ENSP00000434586.1:p.Glu20855Asp
ENST00000589042.5:c.89760A>T (TTN) MANE Select ENSP00000467141.1:p.Glu29920Asp
ENST00000591111.5:c.84837A>T (TTN) ENSP00000465570.1:p.Glu28279Asp
ENST00000615779.4:c.84837A>T (TTN) ENSP00000483597.1:p.Glu28279Asp
NM_001256850.1:c.84837A>T (TTN) NP_001243779.1:p.Glu28279Asp
NM_001267550.2:c.89760A>T (TTN) MANE Select NP_001254479.2:p.Glu29920Asp
NM_003319.4:c.62565A>T (TTN) NP_003310.4:p.Glu20855Asp
NM_133378.4:c.82056A>T (TTN) NP_596869.4:p.Glu27352Asp
NM_133432.3:c.62940A>T (TTN) NP_597676.3:p.Glu20980Asp
NM_133437.4:c.63141A>T (TTN) NP_597681.4:p.Glu21047Asp
NR_038271.1:n.447-18160T>A (TTN-AS1)
NR_038272.1:n.2043+10779T>A (TTN-AS1)
XM_011511729.1:c.88857A>T (TTN) XP_011510031.1:p.Glu29619Asp
XM_011511730.1:c.62751A>T (TTN) XP_011510032.1:p.Glu20917Asp
XM_011511731.1:c.62610A>T (TTN) XP_011510033.1:p.Glu20870Asp
XM_017004819.1:c.88653A>T (TTN) XP_016860308.1:p.Glu29551Asp
XM_017004820.1:c.84051A>T (TTN) XP_016860309.1:p.Glu28017Asp
XM_017004821.1:c.84048A>T (TTN) XP_016860310.1:p.Glu28016Asp
XM_017004822.1:c.81090A>T (TTN) XP_016860311.1:p.Glu27030Asp
XM_017004823.1:c.62706A>T (TTN) XP_016860312.1:p.Glu20902Asp
XM_024453094.1:c.84201A>T (TTN) XP_024308862.1:p.Glu28067Asp
XM_024453095.1:c.84198A>T (TTN) XP_024308863.1:p.Glu28066Asp
XM_024453096.1:c.83631A>T (TTN) XP_024308864.1:p.Glu27877Asp
XM_024453097.1:c.80973A>T (TTN) XP_024308865.1:p.Glu26991Asp
XM_024453098.1:c.80892A>T (TTN) XP_024308866.1:p.Glu26964Asp
XM_024453099.1:c.62655A>T (TTN) XP_024308867.1:p.Glu20885Asp
XM_024453100.1:c.52509A>T (TTN) XP_024308868.1:p.Glu17503Asp