Canonical Allele Identifier: CA349544882

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559835A>T , CM000664.2:g.178559835A>T GRCh38
NC_000002.11:g.179424562A>T , CM000664.1:g.179424562A>T GRCh37
NC_000002.10:g.179132808A>T NCBI36
NG_011618.3:g.275968T>A , LRG_391:g.275968T>A
NG_051363.1:g.42009A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78593T>A (TTN) ENSP00000343764.6:p.Val26198Asp
ENST00000342175.11:c.59678T>A (TTN) ENSP00000340554.6:p.Val19893Asp
ENST00000359218.10:c.59477T>A (TTN) ENSP00000352154.5:p.Val19826Asp
ENST00000342175.10:c.59678T>A (TTN) ENSP00000340554.6:p.Val19893Asp
ENST00000342992.10:c.78593T>A (TTN) ENSP00000343764.6:p.Val26198Asp
ENST00000359218.9:c.59477T>A (TTN) ENSP00000352154.5:p.Val19826Asp
ENST00000460472.6:c.59102T>A (TTN) ENSP00000434586.1:p.Val19701Asp
ENST00000589042.5:c.86297T>A (TTN) MANE Select ENSP00000467141.1:p.Val28766Asp
ENST00000591111.5:c.81374T>A (TTN) ENSP00000465570.1:p.Val27125Asp
ENST00000615779.4:c.81374T>A (TTN) ENSP00000483597.1:p.Val27125Asp
NM_001256850.1:c.81374T>A (TTN) NP_001243779.1:p.Val27125Asp
NM_001267550.2:c.86297T>A (TTN) MANE Select NP_001254479.2:p.Val28766Asp
NM_003319.4:c.59102T>A (TTN) NP_003310.4:p.Val19701Asp
NM_133378.4:c.78593T>A (TTN) NP_596869.4:p.Val26198Asp
NM_133432.3:c.59477T>A (TTN) NP_597676.3:p.Val19826Asp
NM_133437.4:c.59678T>A (TTN) NP_597681.4:p.Val19893Asp
NR_038271.1:n.447-11465A>T (TTN-AS1)
NR_038272.1:n.2043+17474A>T (TTN-AS1)
XM_011511729.1:c.85394T>A (TTN) XP_011510031.1:p.Val28465Asp
XM_011511730.1:c.59288T>A (TTN) XP_011510032.1:p.Val19763Asp
XM_011511731.1:c.59147T>A (TTN) XP_011510033.1:p.Val19716Asp
XM_017004819.1:c.85190T>A (TTN) XP_016860308.1:p.Val28397Asp
XM_017004820.1:c.80588T>A (TTN) XP_016860309.1:p.Val26863Asp
XM_017004821.1:c.80585T>A (TTN) XP_016860310.1:p.Val26862Asp
XM_017004822.1:c.77627T>A (TTN) XP_016860311.1:p.Val25876Asp
XM_017004823.1:c.59243T>A (TTN) XP_016860312.1:p.Val19748Asp
XM_024453094.1:c.80738T>A (TTN) XP_024308862.1:p.Val26913Asp
XM_024453095.1:c.80735T>A (TTN) XP_024308863.1:p.Val26912Asp
XM_024453096.1:c.80168T>A (TTN) XP_024308864.1:p.Val26723Asp
XM_024453097.1:c.77510T>A (TTN) XP_024308865.1:p.Val25837Asp
XM_024453098.1:c.77429T>A (TTN) XP_024308866.1:p.Val25810Asp
XM_024453099.1:c.59192T>A (TTN) XP_024308867.1:p.Val19731Asp
XM_024453100.1:c.49046T>A (TTN) XP_024308868.1:p.Val16349Asp