Canonical Allele Identifier: CA349511671

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552562T>A , CM000664.2:g.178552562T>A GRCh38
NC_000002.11:g.179417289T>A , CM000664.1:g.179417289T>A GRCh37
NC_000002.10:g.179125535T>A NCBI36
NG_011618.3:g.283241A>T , LRG_391:g.283241A>T
NG_051363.1:g.34736T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82634A>T (TTN) ENSP00000343764.6:p.Asp27545Val
ENST00000342175.11:c.63719A>T (TTN) ENSP00000340554.6:p.Asp21240Val
ENST00000359218.10:c.63518A>T (TTN) ENSP00000352154.5:p.Asp21173Val
ENST00000342175.10:c.63719A>T (TTN) ENSP00000340554.6:p.Asp21240Val
ENST00000342992.10:c.82634A>T (TTN) ENSP00000343764.6:p.Asp27545Val
ENST00000359218.9:c.63518A>T (TTN) ENSP00000352154.5:p.Asp21173Val
ENST00000460472.6:c.63143A>T (TTN) ENSP00000434586.1:p.Asp21048Val
ENST00000589042.5:c.90338A>T (TTN) MANE Select ENSP00000467141.1:p.Asp30113Val
ENST00000591111.5:c.85415A>T (TTN) ENSP00000465570.1:p.Asp28472Val
ENST00000615779.4:c.85415A>T (TTN) ENSP00000483597.1:p.Asp28472Val
NM_001256850.1:c.85415A>T (TTN) NP_001243779.1:p.Asp28472Val
NM_001267550.2:c.90338A>T (TTN) MANE Select NP_001254479.2:p.Asp30113Val
NM_003319.4:c.63143A>T (TTN) NP_003310.4:p.Asp21048Val
NM_133378.4:c.82634A>T (TTN) NP_596869.4:p.Asp27545Val
NM_133432.3:c.63518A>T (TTN) NP_597676.3:p.Asp21173Val
NM_133437.4:c.63719A>T (TTN) NP_597681.4:p.Asp21240Val
NR_038271.1:n.447-18738T>A (TTN-AS1)
NR_038272.1:n.2043+10201T>A (TTN-AS1)
XM_011511729.1:c.89435A>T (TTN) XP_011510031.1:p.Asp29812Val
XM_011511730.1:c.63329A>T (TTN) XP_011510032.1:p.Asp21110Val
XM_011511731.1:c.63188A>T (TTN) XP_011510033.1:p.Asp21063Val
XM_017004819.1:c.89231A>T (TTN) XP_016860308.1:p.Asp29744Val
XM_017004820.1:c.84629A>T (TTN) XP_016860309.1:p.Asp28210Val
XM_017004821.1:c.84626A>T (TTN) XP_016860310.1:p.Asp28209Val
XM_017004822.1:c.81668A>T (TTN) XP_016860311.1:p.Asp27223Val
XM_017004823.1:c.63284A>T (TTN) XP_016860312.1:p.Asp21095Val
XM_024453094.1:c.84779A>T (TTN) XP_024308862.1:p.Asp28260Val
XM_024453095.1:c.84776A>T (TTN) XP_024308863.1:p.Asp28259Val
XM_024453096.1:c.84209A>T (TTN) XP_024308864.1:p.Asp28070Val
XM_024453097.1:c.81551A>T (TTN) XP_024308865.1:p.Asp27184Val
XM_024453098.1:c.81470A>T (TTN) XP_024308866.1:p.Asp27157Val
XM_024453099.1:c.63233A>T (TTN) XP_024308867.1:p.Asp21078Val
XM_024453100.1:c.53087A>T (TTN) XP_024308868.1:p.Asp17696Val