Canonical Allele Identifier: CA349407134

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530562T>A , CM000664.2:g.178530562T>A GRCh38
NC_000002.11:g.179395289T>A , CM000664.1:g.179395289T>A GRCh37
NC_000002.10:g.179103535T>A NCBI36
NG_011618.3:g.305241A>T , LRG_391:g.305241A>T
NG_051363.1:g.12736T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98349A>T (TTN) ENSP00000343764.6:p.Glu32783Asp
ENST00000342175.11:c.79434A>T (TTN) ENSP00000340554.6:p.Glu26478Asp
ENST00000359218.10:c.79233A>T (TTN) ENSP00000352154.5:p.Glu26411Asp
ENST00000342175.10:c.79434A>T (TTN) ENSP00000340554.6:p.Glu26478Asp
ENST00000342992.10:c.98349A>T (TTN) ENSP00000343764.6:p.Glu32783Asp
ENST00000359218.9:c.79233A>T (TTN) ENSP00000352154.5:p.Glu26411Asp
ENST00000460472.6:c.78858A>T (TTN) ENSP00000434586.1:p.Glu26286Asp
ENST00000589042.5:c.106053A>T (TTN) MANE Select ENSP00000467141.1:p.Glu35351Asp
ENST00000591111.5:c.101130A>T (TTN) ENSP00000465570.1:p.Glu33710Asp
ENST00000615779.4:c.101130A>T (TTN) ENSP00000483597.1:p.Glu33710Asp
NM_001256850.1:c.101130A>T (TTN) NP_001243779.1:p.Glu33710Asp
NM_001267550.2:c.106053A>T (TTN) MANE Select NP_001254479.2:p.Glu35351Asp
NM_003319.4:c.78858A>T (TTN) NP_003310.4:p.Glu26286Asp
NM_133378.4:c.98349A>T (TTN) NP_596869.4:p.Glu32783Asp
NM_133432.3:c.79233A>T (TTN) NP_597676.3:p.Glu26411Asp
NM_133437.4:c.79434A>T (TTN) NP_597681.4:p.Glu26478Asp
NR_038271.1:n.446+6926T>A (TTN-AS1)
NR_038272.1:n.220-5170T>A (TTN-AS1)
XM_011511729.1:c.105150A>T (TTN) XP_011510031.1:p.Glu35050Asp
XM_011511730.1:c.79044A>T (TTN) XP_011510032.1:p.Glu26348Asp
XM_011511731.1:c.78903A>T (TTN) XP_011510033.1:p.Glu26301Asp
XM_017004819.1:c.104946A>T (TTN) XP_016860308.1:p.Glu34982Asp
XM_017004820.1:c.100344A>T (TTN) XP_016860309.1:p.Glu33448Asp
XM_017004821.1:c.100341A>T (TTN) XP_016860310.1:p.Glu33447Asp
XM_017004822.1:c.97383A>T (TTN) XP_016860311.1:p.Glu32461Asp
XM_017004823.1:c.78999A>T (TTN) XP_016860312.1:p.Glu26333Asp
XM_024453094.1:c.100494A>T (TTN) XP_024308862.1:p.Glu33498Asp
XM_024453095.1:c.100491A>T (TTN) XP_024308863.1:p.Glu33497Asp
XM_024453096.1:c.99924A>T (TTN) XP_024308864.1:p.Glu33308Asp
XM_024453097.1:c.97266A>T (TTN) XP_024308865.1:p.Glu32422Asp
XM_024453098.1:c.97185A>T (TTN) XP_024308866.1:p.Glu32395Asp
XM_024453099.1:c.78948A>T (TTN) XP_024308867.1:p.Glu26316Asp
XM_024453100.1:c.68802A>T (TTN) XP_024308868.1:p.Glu22934Asp