Canonical Allele Identifier: CA349564273

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562316A>T , CM000664.2:g.178562316A>T GRCh38
NC_000002.11:g.179427043A>T , CM000664.1:g.179427043A>T GRCh37
NC_000002.10:g.179135289A>T NCBI36
NG_011618.3:g.273487T>A , LRG_391:g.273487T>A
NG_051363.1:g.44490A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.76112T>A (TTN) ENSP00000343764.6:p.Val25371Asp
ENST00000342175.11:c.57197T>A (TTN) ENSP00000340554.6:p.Val19066Asp
ENST00000359218.10:c.56996T>A (TTN) ENSP00000352154.5:p.Val18999Asp
ENST00000342175.10:c.57197T>A (TTN) ENSP00000340554.6:p.Val19066Asp
ENST00000342992.10:c.76112T>A (TTN) ENSP00000343764.6:p.Val25371Asp
ENST00000359218.9:c.56996T>A (TTN) ENSP00000352154.5:p.Val18999Asp
ENST00000460472.6:c.56621T>A (TTN) ENSP00000434586.1:p.Val18874Asp
ENST00000589042.5:c.83816T>A (TTN) MANE Select ENSP00000467141.1:p.Val27939Asp
ENST00000591111.5:c.78893T>A (TTN) ENSP00000465570.1:p.Val26298Asp
ENST00000615779.4:c.78893T>A (TTN) ENSP00000483597.1:p.Val26298Asp
NM_001256850.1:c.78893T>A (TTN) NP_001243779.1:p.Val26298Asp
NM_001267550.2:c.83816T>A (TTN) MANE Select NP_001254479.2:p.Val27939Asp
NM_003319.4:c.56621T>A (TTN) NP_003310.4:p.Val18874Asp
NM_133378.4:c.76112T>A (TTN) NP_596869.4:p.Val25371Asp
NM_133432.3:c.56996T>A (TTN) NP_597676.3:p.Val18999Asp
NM_133437.4:c.57197T>A (TTN) NP_597681.4:p.Val19066Asp
NR_038271.1:n.447-8984A>T (TTN-AS1)
NR_038272.1:n.2043+19955A>T (TTN-AS1)
XM_011511729.1:c.82913T>A (TTN) XP_011510031.1:p.Val27638Asp
XM_011511730.1:c.56807T>A (TTN) XP_011510032.1:p.Val18936Asp
XM_011511731.1:c.56666T>A (TTN) XP_011510033.1:p.Val18889Asp
XM_017004819.1:c.82709T>A (TTN) XP_016860308.1:p.Val27570Asp
XM_017004820.1:c.78107T>A (TTN) XP_016860309.1:p.Val26036Asp
XM_017004821.1:c.78104T>A (TTN) XP_016860310.1:p.Val26035Asp
XM_017004822.1:c.75146T>A (TTN) XP_016860311.1:p.Val25049Asp
XM_017004823.1:c.56762T>A (TTN) XP_016860312.1:p.Val18921Asp
XM_024453094.1:c.78257T>A (TTN) XP_024308862.1:p.Val26086Asp
XM_024453095.1:c.78254T>A (TTN) XP_024308863.1:p.Val26085Asp
XM_024453096.1:c.77687T>A (TTN) XP_024308864.1:p.Val25896Asp
XM_024453097.1:c.75029T>A (TTN) XP_024308865.1:p.Val25010Asp
XM_024453098.1:c.74948T>A (TTN) XP_024308866.1:p.Val24983Asp
XM_024453099.1:c.56711T>A (TTN) XP_024308867.1:p.Val18904Asp
XM_024453100.1:c.46565T>A (TTN) XP_024308868.1:p.Val15522Asp