Canonical Allele Identifier: CA349458091

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544473A>C , CM000664.2:g.178544473A>C GRCh38
NC_000002.11:g.179409200A>C , CM000664.1:g.179409200A>C GRCh37
NC_000002.10:g.179117446A>C NCBI36
NG_011618.3:g.291330T>G , LRG_391:g.291330T>G
NG_051363.1:g.26647A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88052T>G (TTN) ENSP00000343764.6:p.Val29351Gly
ENST00000342175.11:c.69137T>G (TTN) ENSP00000340554.6:p.Val23046Gly
ENST00000359218.10:c.68936T>G (TTN) ENSP00000352154.5:p.Val22979Gly
ENST00000342175.10:c.69137T>G (TTN) ENSP00000340554.6:p.Val23046Gly
ENST00000342992.10:c.88052T>G (TTN) ENSP00000343764.6:p.Val29351Gly
ENST00000359218.9:c.68936T>G (TTN) ENSP00000352154.5:p.Val22979Gly
ENST00000460472.6:c.68561T>G (TTN) ENSP00000434586.1:p.Val22854Gly
ENST00000589042.5:c.95756T>G (TTN) MANE Select ENSP00000467141.1:p.Val31919Gly
ENST00000591111.5:c.90833T>G (TTN) ENSP00000465570.1:p.Val30278Gly
ENST00000615779.4:c.90833T>G (TTN) ENSP00000483597.1:p.Val30278Gly
NM_001256850.1:c.90833T>G (TTN) NP_001243779.1:p.Val30278Gly
NM_001267550.2:c.95756T>G (TTN) MANE Select NP_001254479.2:p.Val31919Gly
NM_003319.4:c.68561T>G (TTN) NP_003310.4:p.Val22854Gly
NM_133378.4:c.88052T>G (TTN) NP_596869.4:p.Val29351Gly
NM_133432.3:c.68936T>G (TTN) NP_597676.3:p.Val22979Gly
NM_133437.4:c.69137T>G (TTN) NP_597681.4:p.Val23046Gly
NR_038271.1:n.446+20837A>C (TTN-AS1)
NR_038272.1:n.2043+2112A>C (TTN-AS1)
XM_011511729.1:c.94853T>G (TTN) XP_011510031.1:p.Val31618Gly
XM_011511730.1:c.68747T>G (TTN) XP_011510032.1:p.Val22916Gly
XM_011511731.1:c.68606T>G (TTN) XP_011510033.1:p.Val22869Gly
XM_017004819.1:c.94649T>G (TTN) XP_016860308.1:p.Val31550Gly
XM_017004820.1:c.90047T>G (TTN) XP_016860309.1:p.Val30016Gly
XM_017004821.1:c.90044T>G (TTN) XP_016860310.1:p.Val30015Gly
XM_017004822.1:c.87086T>G (TTN) XP_016860311.1:p.Val29029Gly
XM_017004823.1:c.68702T>G (TTN) XP_016860312.1:p.Val22901Gly
XM_024453094.1:c.90197T>G (TTN) XP_024308862.1:p.Val30066Gly
XM_024453095.1:c.90194T>G (TTN) XP_024308863.1:p.Val30065Gly
XM_024453096.1:c.89627T>G (TTN) XP_024308864.1:p.Val29876Gly
XM_024453097.1:c.86969T>G (TTN) XP_024308865.1:p.Val28990Gly
XM_024453098.1:c.86888T>G (TTN) XP_024308866.1:p.Val28963Gly
XM_024453099.1:c.68651T>G (TTN) XP_024308867.1:p.Val22884Gly
XM_024453100.1:c.58505T>G (TTN) XP_024308868.1:p.Val19502Gly