Canonical Allele Identifier: CA349406939

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530472A>T , CM000664.2:g.178530472A>T GRCh38
NC_000002.11:g.179395199A>T , CM000664.1:g.179395199A>T GRCh37
NC_000002.10:g.179103445A>T NCBI36
NG_011618.3:g.305331T>A , LRG_391:g.305331T>A
NG_051363.1:g.12646A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98439T>A (TTN) ENSP00000343764.6:p.Ser32813Arg
ENST00000342175.11:c.79524T>A (TTN) ENSP00000340554.6:p.Ser26508Arg
ENST00000359218.10:c.79323T>A (TTN) ENSP00000352154.5:p.Ser26441Arg
ENST00000342175.10:c.79524T>A (TTN) ENSP00000340554.6:p.Ser26508Arg
ENST00000342992.10:c.98439T>A (TTN) ENSP00000343764.6:p.Ser32813Arg
ENST00000359218.9:c.79323T>A (TTN) ENSP00000352154.5:p.Ser26441Arg
ENST00000460472.6:c.78948T>A (TTN) ENSP00000434586.1:p.Ser26316Arg
ENST00000589042.5:c.106143T>A (TTN) MANE Select ENSP00000467141.1:p.Ser35381Arg
ENST00000591111.5:c.101220T>A (TTN) ENSP00000465570.1:p.Ser33740Arg
ENST00000615779.4:c.101220T>A (TTN) ENSP00000483597.1:p.Ser33740Arg
NM_001256850.1:c.101220T>A (TTN) NP_001243779.1:p.Ser33740Arg
NM_001267550.2:c.106143T>A (TTN) MANE Select NP_001254479.2:p.Ser35381Arg
NM_003319.4:c.78948T>A (TTN) NP_003310.4:p.Ser26316Arg
NM_133378.4:c.98439T>A (TTN) NP_596869.4:p.Ser32813Arg
NM_133432.3:c.79323T>A (TTN) NP_597676.3:p.Ser26441Arg
NM_133437.4:c.79524T>A (TTN) NP_597681.4:p.Ser26508Arg
NR_038271.1:n.446+6836A>T (TTN-AS1)
NR_038272.1:n.220-5260A>T (TTN-AS1)
XM_011511729.1:c.105240T>A (TTN) XP_011510031.1:p.Ser35080Arg
XM_011511730.1:c.79134T>A (TTN) XP_011510032.1:p.Ser26378Arg
XM_011511731.1:c.78993T>A (TTN) XP_011510033.1:p.Ser26331Arg
XM_017004819.1:c.105036T>A (TTN) XP_016860308.1:p.Ser35012Arg
XM_017004820.1:c.100434T>A (TTN) XP_016860309.1:p.Ser33478Arg
XM_017004821.1:c.100431T>A (TTN) XP_016860310.1:p.Ser33477Arg
XM_017004822.1:c.97473T>A (TTN) XP_016860311.1:p.Ser32491Arg
XM_017004823.1:c.79089T>A (TTN) XP_016860312.1:p.Ser26363Arg
XM_024453094.1:c.100584T>A (TTN) XP_024308862.1:p.Ser33528Arg
XM_024453095.1:c.100581T>A (TTN) XP_024308863.1:p.Ser33527Arg
XM_024453096.1:c.100014T>A (TTN) XP_024308864.1:p.Ser33338Arg
XM_024453097.1:c.97356T>A (TTN) XP_024308865.1:p.Ser32452Arg
XM_024453098.1:c.97275T>A (TTN) XP_024308866.1:p.Ser32425Arg
XM_024453099.1:c.79038T>A (TTN) XP_024308867.1:p.Ser26346Arg
XM_024453100.1:c.68892T>A (TTN) XP_024308868.1:p.Ser22964Arg