Canonical Allele Identifier: CA349465199

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589410T>G , CM000664.2:g.178589410T>G GRCh38
NC_000002.11:g.179454137T>G , CM000664.1:g.179454137T>G GRCh37
NC_000002.10:g.179162383T>G NCBI36
NG_011618.3:g.246393A>C , LRG_391:g.246393A>C
NG_051363.1:g.71584T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.54611A>C (TTN) ENSP00000343764.6:p.Asp18204Ala
ENST00000342175.11:c.35696A>C (TTN) ENSP00000340554.6:p.Asp11899Ala
ENST00000359218.10:c.35495A>C (TTN) ENSP00000352154.5:p.Asp11832Ala
ENST00000342175.10:c.35696A>C (TTN) ENSP00000340554.6:p.Asp11899Ala
ENST00000342992.10:c.54611A>C (TTN) ENSP00000343764.6:p.Asp18204Ala
ENST00000359218.9:c.35495A>C (TTN) ENSP00000352154.5:p.Asp11832Ala
ENST00000460472.6:c.35120A>C (TTN) ENSP00000434586.1:p.Asp11707Ala
ENST00000589042.5:c.62315A>C (TTN) MANE Select ENSP00000467141.1:p.Asp20772Ala
ENST00000591111.5:c.57392A>C (TTN) ENSP00000465570.1:p.Asp19131Ala
ENST00000615779.4:c.57392A>C (TTN) ENSP00000483597.1:p.Asp19131Ala
NM_001256850.1:c.57392A>C (TTN) NP_001243779.1:p.Asp19131Ala
NM_001267550.2:c.62315A>C (TTN) MANE Select NP_001254479.2:p.Asp20772Ala
NM_003319.4:c.35120A>C (TTN) NP_003310.4:p.Asp11707Ala
NM_133378.4:c.54611A>C (TTN) NP_596869.4:p.Asp18204Ala
NM_133432.3:c.35495A>C (TTN) NP_597676.3:p.Asp11832Ala
NM_133437.4:c.35696A>C (TTN) NP_597681.4:p.Asp11899Ala
NR_038271.1:n.597-8186T>G (TTN-AS1)
NR_038272.1:n.3189-1729T>G (TTN-AS1)
XM_011511729.1:c.61412A>C (TTN) XP_011510031.1:p.Asp20471Ala
XM_011511730.1:c.35306A>C (TTN) XP_011510032.1:p.Asp11769Ala
XM_011511731.1:c.35165A>C (TTN) XP_011510033.1:p.Asp11722Ala
XM_017004819.1:c.61208A>C (TTN) XP_016860308.1:p.Asp20403Ala
XM_017004820.1:c.56606A>C (TTN) XP_016860309.1:p.Asp18869Ala
XM_017004821.1:c.56603A>C (TTN) XP_016860310.1:p.Asp18868Ala
XM_017004822.1:c.53645A>C (TTN) XP_016860311.1:p.Asp17882Ala
XM_017004823.1:c.35261A>C (TTN) XP_016860312.1:p.Asp11754Ala
XM_024453094.1:c.56756A>C (TTN) XP_024308862.1:p.Asp18919Ala
XM_024453095.1:c.56753A>C (TTN) XP_024308863.1:p.Asp18918Ala
XM_024453096.1:c.56186A>C (TTN) XP_024308864.1:p.Asp18729Ala
XM_024453097.1:c.53528A>C (TTN) XP_024308865.1:p.Asp17843Ala
XM_024453098.1:c.53447A>C (TTN) XP_024308866.1:p.Asp17816Ala
XM_024453099.1:c.35210A>C (TTN) XP_024308867.1:p.Asp11737Ala
XM_024453100.1:c.25064A>C (TTN) XP_024308868.1:p.Asp8355Ala