Canonical Allele Identifier: CA349512705

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552671A>C , CM000664.2:g.178552671A>C GRCh38
NC_000002.11:g.179417398A>C , CM000664.1:g.179417398A>C GRCh37
NC_000002.10:g.179125644A>C NCBI36
NG_011618.3:g.283132T>G , LRG_391:g.283132T>G
NG_051363.1:g.34845A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82525T>G (TTN) ENSP00000343764.6:p.Trp27509Gly
ENST00000342175.11:c.63610T>G (TTN) ENSP00000340554.6:p.Trp21204Gly
ENST00000359218.10:c.63409T>G (TTN) ENSP00000352154.5:p.Trp21137Gly
ENST00000342175.10:c.63610T>G (TTN) ENSP00000340554.6:p.Trp21204Gly
ENST00000342992.10:c.82525T>G (TTN) ENSP00000343764.6:p.Trp27509Gly
ENST00000359218.9:c.63409T>G (TTN) ENSP00000352154.5:p.Trp21137Gly
ENST00000460472.6:c.63034T>G (TTN) ENSP00000434586.1:p.Trp21012Gly
ENST00000589042.5:c.90229T>G (TTN) MANE Select ENSP00000467141.1:p.Trp30077Gly
ENST00000591111.5:c.85306T>G (TTN) ENSP00000465570.1:p.Trp28436Gly
ENST00000615779.4:c.85306T>G (TTN) ENSP00000483597.1:p.Trp28436Gly
NM_001256850.1:c.85306T>G (TTN) NP_001243779.1:p.Trp28436Gly
NM_001267550.2:c.90229T>G (TTN) MANE Select NP_001254479.2:p.Trp30077Gly
NM_003319.4:c.63034T>G (TTN) NP_003310.4:p.Trp21012Gly
NM_133378.4:c.82525T>G (TTN) NP_596869.4:p.Trp27509Gly
NM_133432.3:c.63409T>G (TTN) NP_597676.3:p.Trp21137Gly
NM_133437.4:c.63610T>G (TTN) NP_597681.4:p.Trp21204Gly
NR_038271.1:n.447-18629A>C (TTN-AS1)
NR_038272.1:n.2043+10310A>C (TTN-AS1)
XM_011511729.1:c.89326T>G (TTN) XP_011510031.1:p.Trp29776Gly
XM_011511730.1:c.63220T>G (TTN) XP_011510032.1:p.Trp21074Gly
XM_011511731.1:c.63079T>G (TTN) XP_011510033.1:p.Trp21027Gly
XM_017004819.1:c.89122T>G (TTN) XP_016860308.1:p.Trp29708Gly
XM_017004820.1:c.84520T>G (TTN) XP_016860309.1:p.Trp28174Gly
XM_017004821.1:c.84517T>G (TTN) XP_016860310.1:p.Trp28173Gly
XM_017004822.1:c.81559T>G (TTN) XP_016860311.1:p.Trp27187Gly
XM_017004823.1:c.63175T>G (TTN) XP_016860312.1:p.Trp21059Gly
XM_024453094.1:c.84670T>G (TTN) XP_024308862.1:p.Trp28224Gly
XM_024453095.1:c.84667T>G (TTN) XP_024308863.1:p.Trp28223Gly
XM_024453096.1:c.84100T>G (TTN) XP_024308864.1:p.Trp28034Gly
XM_024453097.1:c.81442T>G (TTN) XP_024308865.1:p.Trp27148Gly
XM_024453098.1:c.81361T>G (TTN) XP_024308866.1:p.Trp27121Gly
XM_024453099.1:c.63124T>G (TTN) XP_024308867.1:p.Trp21042Gly
XM_024453100.1:c.52978T>G (TTN) XP_024308868.1:p.Trp17660Gly