Canonical Allele Identifier: CA349608984

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615365T>C , CM000664.2:g.178615365T>C GRCh38
NC_000002.11:g.179480092T>C , CM000664.1:g.179480092T>C GRCh37
NC_000002.10:g.179188337T>C NCBI36
NG_011618.3:g.220438A>G , LRG_391:g.220438A>G
NG_051363.1:g.97539T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.40876A>G (TTN) ENSP00000343764.6:p.Arg13626Gly
ENST00000342175.11:c.21961A>G (TTN) ENSP00000340554.6:p.Arg7321Gly
ENST00000359218.10:c.21760A>G (TTN) ENSP00000352154.5:p.Arg7254Gly
ENST00000342175.10:c.21961A>G (TTN) ENSP00000340554.6:p.Arg7321Gly
ENST00000342992.10:c.40876A>G (TTN) ENSP00000343764.6:p.Arg13626Gly
ENST00000359218.9:c.21760A>G (TTN) ENSP00000352154.5:p.Arg7254Gly
ENST00000460472.6:c.21385A>G (TTN) ENSP00000434586.1:p.Arg7129Gly
ENST00000589042.5:c.48580A>G (TTN) MANE Select ENSP00000467141.1:p.Arg16194Gly
ENST00000591111.5:c.43657A>G (TTN) ENSP00000465570.1:p.Arg14553Gly
ENST00000615779.4:c.43657A>G (TTN) ENSP00000483597.1:p.Arg14553Gly
NM_001256850.1:c.43657A>G (TTN) NP_001243779.1:p.Arg14553Gly
NM_001267550.2:c.48580A>G (TTN) MANE Select NP_001254479.2:p.Arg16194Gly
NM_003319.4:c.21385A>G (TTN) NP_003310.4:p.Arg7129Gly
NM_133378.4:c.40876A>G (TTN) NP_596869.4:p.Arg13626Gly
NM_133432.3:c.21760A>G (TTN) NP_597676.3:p.Arg7254Gly
NM_133437.4:c.21961A>G (TTN) NP_597681.4:p.Arg7321Gly
NR_038271.1:n.1595T>C (TTN-AS1)
XM_011511729.1:c.47677A>G (TTN) XP_011510031.1:p.Arg15893Gly
XM_011511730.1:c.21571A>G (TTN) XP_011510032.1:p.Arg7191Gly
XM_011511731.1:c.21430A>G (TTN) XP_011510033.1:p.Arg7144Gly
XM_017004819.1:c.47473A>G (TTN) XP_016860308.1:p.Arg15825Gly
XM_017004820.1:c.42871A>G (TTN) XP_016860309.1:p.Arg14291Gly
XM_017004821.1:c.42868A>G (TTN) XP_016860310.1:p.Arg14290Gly
XM_017004822.1:c.39910A>G (TTN) XP_016860311.1:p.Arg13304Gly
XM_017004823.1:c.21526A>G (TTN) XP_016860312.1:p.Arg7176Gly
XM_024453094.1:c.43021A>G (TTN) XP_024308862.1:p.Arg14341Gly
XM_024453095.1:c.43018A>G (TTN) XP_024308863.1:p.Arg14340Gly
XM_024453096.1:c.42451A>G (TTN) XP_024308864.1:p.Arg14151Gly
XM_024453097.1:c.39793A>G (TTN) XP_024308865.1:p.Arg13265Gly
XM_024453098.1:c.39712A>G (TTN) XP_024308866.1:p.Arg13238Gly
XM_024453099.1:c.21475A>G (TTN) XP_024308867.1:p.Arg7159Gly
XM_024453100.1:c.11329A>G (TTN) XP_024308868.1:p.Arg3777Gly