Canonical Allele Identifier: CA349406953

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530477T>G , CM000664.2:g.178530477T>G GRCh38
NC_000002.11:g.179395204T>G , CM000664.1:g.179395204T>G GRCh37
NC_000002.10:g.179103450T>G NCBI36
NG_011618.3:g.305326A>C , LRG_391:g.305326A>C
NG_051363.1:g.12651T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98434A>C (TTN) ENSP00000343764.6:p.Lys32812Gln
ENST00000342175.11:c.79519A>C (TTN) ENSP00000340554.6:p.Lys26507Gln
ENST00000359218.10:c.79318A>C (TTN) ENSP00000352154.5:p.Lys26440Gln
ENST00000342175.10:c.79519A>C (TTN) ENSP00000340554.6:p.Lys26507Gln
ENST00000342992.10:c.98434A>C (TTN) ENSP00000343764.6:p.Lys32812Gln
ENST00000359218.9:c.79318A>C (TTN) ENSP00000352154.5:p.Lys26440Gln
ENST00000460472.6:c.78943A>C (TTN) ENSP00000434586.1:p.Lys26315Gln
ENST00000589042.5:c.106138A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35380Gln
ENST00000591111.5:c.101215A>C (TTN) ENSP00000465570.1:p.Lys33739Gln
ENST00000615779.4:c.101215A>C (TTN) ENSP00000483597.1:p.Lys33739Gln
NM_001256850.1:c.101215A>C (TTN) NP_001243779.1:p.Lys33739Gln
NM_001267550.2:c.106138A>C (TTN) MANE Select NP_001254479.2:p.Lys35380Gln
NM_003319.4:c.78943A>C (TTN) NP_003310.4:p.Lys26315Gln
NM_133378.4:c.98434A>C (TTN) NP_596869.4:p.Lys32812Gln
NM_133432.3:c.79318A>C (TTN) NP_597676.3:p.Lys26440Gln
NM_133437.4:c.79519A>C (TTN) NP_597681.4:p.Lys26507Gln
NR_038271.1:n.446+6841T>G (TTN-AS1)
NR_038272.1:n.220-5255T>G (TTN-AS1)
XM_011511729.1:c.105235A>C (TTN) XP_011510031.1:p.Lys35079Gln
XM_011511730.1:c.79129A>C (TTN) XP_011510032.1:p.Lys26377Gln
XM_011511731.1:c.78988A>C (TTN) XP_011510033.1:p.Lys26330Gln
XM_017004819.1:c.105031A>C (TTN) XP_016860308.1:p.Lys35011Gln
XM_017004820.1:c.100429A>C (TTN) XP_016860309.1:p.Lys33477Gln
XM_017004821.1:c.100426A>C (TTN) XP_016860310.1:p.Lys33476Gln
XM_017004822.1:c.97468A>C (TTN) XP_016860311.1:p.Lys32490Gln
XM_017004823.1:c.79084A>C (TTN) XP_016860312.1:p.Lys26362Gln
XM_024453094.1:c.100579A>C (TTN) XP_024308862.1:p.Lys33527Gln
XM_024453095.1:c.100576A>C (TTN) XP_024308863.1:p.Lys33526Gln
XM_024453096.1:c.100009A>C (TTN) XP_024308864.1:p.Lys33337Gln
XM_024453097.1:c.97351A>C (TTN) XP_024308865.1:p.Lys32451Gln
XM_024453098.1:c.97270A>C (TTN) XP_024308866.1:p.Lys32424Gln
XM_024453099.1:c.79033A>C (TTN) XP_024308867.1:p.Lys26345Gln
XM_024453100.1:c.68887A>C (TTN) XP_024308868.1:p.Lys22963Gln