Canonical Allele Identifier: CA349545261

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602340T>A , CM000664.2:g.178602340T>A GRCh38
NC_000002.11:g.179467067T>A , CM000664.1:g.179467067T>A GRCh37
NC_000002.10:g.179175312T>A NCBI36
NG_011618.3:g.233463A>T , LRG_391:g.233463A>T
NG_051363.1:g.84514T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.47358A>T (TTN) ENSP00000343764.6:p.Glu15786Asp
ENST00000342175.11:c.28443A>T (TTN) ENSP00000340554.6:p.Glu9481Asp
ENST00000359218.10:c.28242A>T (TTN) ENSP00000352154.5:p.Glu9414Asp
ENST00000342175.10:c.28443A>T (TTN) ENSP00000340554.6:p.Glu9481Asp
ENST00000342992.10:c.47358A>T (TTN) ENSP00000343764.6:p.Glu15786Asp
ENST00000359218.9:c.28242A>T (TTN) ENSP00000352154.5:p.Glu9414Asp
ENST00000460472.6:c.27867A>T (TTN) ENSP00000434586.1:p.Glu9289Asp
ENST00000589042.5:c.55062A>T (TTN) MANE Select ENSP00000467141.1:p.Glu18354Asp
ENST00000591111.5:c.50139A>T (TTN) ENSP00000465570.1:p.Glu16713Asp
ENST00000615779.4:c.50139A>T (TTN) ENSP00000483597.1:p.Glu16713Asp
NM_001256850.1:c.50139A>T (TTN) NP_001243779.1:p.Glu16713Asp
NM_001267550.2:c.55062A>T (TTN) MANE Select NP_001254479.2:p.Glu18354Asp
NM_003319.4:c.27867A>T (TTN) NP_003310.4:p.Glu9289Asp
NM_133378.4:c.47358A>T (TTN) NP_596869.4:p.Glu15786Asp
NM_133432.3:c.28242A>T (TTN) NP_597676.3:p.Glu9414Asp
NM_133437.4:c.28443A>T (TTN) NP_597681.4:p.Glu9481Asp
NR_038271.1:n.682+4659T>A (TTN-AS1)
NR_038272.1:n.3917+1673T>A (TTN-AS1)
XM_011511729.1:c.54159A>T (TTN) XP_011510031.1:p.Glu18053Asp
XM_011511730.1:c.28053A>T (TTN) XP_011510032.1:p.Glu9351Asp
XM_011511731.1:c.27912A>T (TTN) XP_011510033.1:p.Glu9304Asp
XM_017004819.1:c.53955A>T (TTN) XP_016860308.1:p.Glu17985Asp
XM_017004820.1:c.49353A>T (TTN) XP_016860309.1:p.Glu16451Asp
XM_017004821.1:c.49350A>T (TTN) XP_016860310.1:p.Glu16450Asp
XM_017004822.1:c.46392A>T (TTN) XP_016860311.1:p.Glu15464Asp
XM_017004823.1:c.28008A>T (TTN) XP_016860312.1:p.Glu9336Asp
XM_024453094.1:c.49503A>T (TTN) XP_024308862.1:p.Glu16501Asp
XM_024453095.1:c.49500A>T (TTN) XP_024308863.1:p.Glu16500Asp
XM_024453096.1:c.48933A>T (TTN) XP_024308864.1:p.Glu16311Asp
XM_024453097.1:c.46275A>T (TTN) XP_024308865.1:p.Glu15425Asp
XM_024453098.1:c.46194A>T (TTN) XP_024308866.1:p.Glu15398Asp
XM_024453099.1:c.27957A>T (TTN) XP_024308867.1:p.Glu9319Asp
XM_024453100.1:c.17811A>T (TTN) XP_024308868.1:p.Glu5937Asp