Canonical Allele Identifier: CA349495534

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549767A>T , CM000664.2:g.178549767A>T GRCh38
NC_000002.11:g.179414494A>T , CM000664.1:g.179414494A>T GRCh37
NC_000002.10:g.179122740A>T NCBI36
NG_011618.3:g.286036T>A , LRG_391:g.286036T>A
NG_051363.1:g.31941A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84251T>A (TTN) ENSP00000343764.6:p.Ile28084Lys
ENST00000342175.11:c.65336T>A (TTN) ENSP00000340554.6:p.Ile21779Lys
ENST00000359218.10:c.65135T>A (TTN) ENSP00000352154.5:p.Ile21712Lys
ENST00000342175.10:c.65336T>A (TTN) ENSP00000340554.6:p.Ile21779Lys
ENST00000342992.10:c.84251T>A (TTN) ENSP00000343764.6:p.Ile28084Lys
ENST00000359218.9:c.65135T>A (TTN) ENSP00000352154.5:p.Ile21712Lys
ENST00000460472.6:c.64760T>A (TTN) ENSP00000434586.1:p.Ile21587Lys
ENST00000589042.5:c.91955T>A (TTN) MANE Select ENSP00000467141.1:p.Ile30652Lys
ENST00000591111.5:c.87032T>A (TTN) ENSP00000465570.1:p.Ile29011Lys
ENST00000615779.4:c.87032T>A (TTN) ENSP00000483597.1:p.Ile29011Lys
NM_001256850.1:c.87032T>A (TTN) NP_001243779.1:p.Ile29011Lys
NM_001267550.2:c.91955T>A (TTN) MANE Select NP_001254479.2:p.Ile30652Lys
NM_003319.4:c.64760T>A (TTN) NP_003310.4:p.Ile21587Lys
NM_133378.4:c.84251T>A (TTN) NP_596869.4:p.Ile28084Lys
NM_133432.3:c.65135T>A (TTN) NP_597676.3:p.Ile21712Lys
NM_133437.4:c.65336T>A (TTN) NP_597681.4:p.Ile21779Lys
NR_038271.1:n.447-21533A>T (TTN-AS1)
NR_038272.1:n.2043+7406A>T (TTN-AS1)
XM_011511729.1:c.91052T>A (TTN) XP_011510031.1:p.Ile30351Lys
XM_011511730.1:c.64946T>A (TTN) XP_011510032.1:p.Ile21649Lys
XM_011511731.1:c.64805T>A (TTN) XP_011510033.1:p.Ile21602Lys
XM_017004819.1:c.90848T>A (TTN) XP_016860308.1:p.Ile30283Lys
XM_017004820.1:c.86246T>A (TTN) XP_016860309.1:p.Ile28749Lys
XM_017004821.1:c.86243T>A (TTN) XP_016860310.1:p.Ile28748Lys
XM_017004822.1:c.83285T>A (TTN) XP_016860311.1:p.Ile27762Lys
XM_017004823.1:c.64901T>A (TTN) XP_016860312.1:p.Ile21634Lys
XM_024453094.1:c.86396T>A (TTN) XP_024308862.1:p.Ile28799Lys
XM_024453095.1:c.86393T>A (TTN) XP_024308863.1:p.Ile28798Lys
XM_024453096.1:c.85826T>A (TTN) XP_024308864.1:p.Ile28609Lys
XM_024453097.1:c.83168T>A (TTN) XP_024308865.1:p.Ile27723Lys
XM_024453098.1:c.83087T>A (TTN) XP_024308866.1:p.Ile27696Lys
XM_024453099.1:c.64850T>A (TTN) XP_024308867.1:p.Ile21617Lys
XM_024453100.1:c.54704T>A (TTN) XP_024308868.1:p.Ile18235Lys