Canonical Allele Identifier: CA349465194

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589409A>T , CM000664.2:g.178589409A>T GRCh38
NC_000002.11:g.179454136A>T , CM000664.1:g.179454136A>T GRCh37
NC_000002.10:g.179162382A>T NCBI36
NG_011618.3:g.246394T>A , LRG_391:g.246394T>A
NG_051363.1:g.71583A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.54612T>A (TTN) ENSP00000343764.6:p.Asp18204Glu
ENST00000342175.11:c.35697T>A (TTN) ENSP00000340554.6:p.Asp11899Glu
ENST00000359218.10:c.35496T>A (TTN) ENSP00000352154.5:p.Asp11832Glu
ENST00000342175.10:c.35697T>A (TTN) ENSP00000340554.6:p.Asp11899Glu
ENST00000342992.10:c.54612T>A (TTN) ENSP00000343764.6:p.Asp18204Glu
ENST00000359218.9:c.35496T>A (TTN) ENSP00000352154.5:p.Asp11832Glu
ENST00000460472.6:c.35121T>A (TTN) ENSP00000434586.1:p.Asp11707Glu
ENST00000589042.5:c.62316T>A (TTN) MANE Select ENSP00000467141.1:p.Asp20772Glu
ENST00000591111.5:c.57393T>A (TTN) ENSP00000465570.1:p.Asp19131Glu
ENST00000615779.4:c.57393T>A (TTN) ENSP00000483597.1:p.Asp19131Glu
NM_001256850.1:c.57393T>A (TTN) NP_001243779.1:p.Asp19131Glu
NM_001267550.2:c.62316T>A (TTN) MANE Select NP_001254479.2:p.Asp20772Glu
NM_003319.4:c.35121T>A (TTN) NP_003310.4:p.Asp11707Glu
NM_133378.4:c.54612T>A (TTN) NP_596869.4:p.Asp18204Glu
NM_133432.3:c.35496T>A (TTN) NP_597676.3:p.Asp11832Glu
NM_133437.4:c.35697T>A (TTN) NP_597681.4:p.Asp11899Glu
NR_038271.1:n.597-8187A>T (TTN-AS1)
NR_038272.1:n.3189-1730A>T (TTN-AS1)
XM_011511729.1:c.61413T>A (TTN) XP_011510031.1:p.Asp20471Glu
XM_011511730.1:c.35307T>A (TTN) XP_011510032.1:p.Asp11769Glu
XM_011511731.1:c.35166T>A (TTN) XP_011510033.1:p.Asp11722Glu
XM_017004819.1:c.61209T>A (TTN) XP_016860308.1:p.Asp20403Glu
XM_017004820.1:c.56607T>A (TTN) XP_016860309.1:p.Asp18869Glu
XM_017004821.1:c.56604T>A (TTN) XP_016860310.1:p.Asp18868Glu
XM_017004822.1:c.53646T>A (TTN) XP_016860311.1:p.Asp17882Glu
XM_017004823.1:c.35262T>A (TTN) XP_016860312.1:p.Asp11754Glu
XM_024453094.1:c.56757T>A (TTN) XP_024308862.1:p.Asp18919Glu
XM_024453095.1:c.56754T>A (TTN) XP_024308863.1:p.Asp18918Glu
XM_024453096.1:c.56187T>A (TTN) XP_024308864.1:p.Asp18729Glu
XM_024453097.1:c.53529T>A (TTN) XP_024308865.1:p.Asp17843Glu
XM_024453098.1:c.53448T>A (TTN) XP_024308866.1:p.Asp17816Glu
XM_024453099.1:c.35211T>A (TTN) XP_024308867.1:p.Asp11737Glu
XM_024453100.1:c.25065T>A (TTN) XP_024308868.1:p.Asp8355Glu