Canonical Allele Identifier: CA349612344

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568998T>C , CM000664.2:g.178568998T>C GRCh38
NC_000002.11:g.179433725T>C , CM000664.1:g.179433725T>C GRCh37
NC_000002.10:g.179141971T>C NCBI36
NG_011618.3:g.266805A>G , LRG_391:g.266805A>G
NG_051363.1:g.51172T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69430A>G (TTN) ENSP00000343764.6:p.Arg23144Gly
ENST00000342175.11:c.50515A>G (TTN) ENSP00000340554.6:p.Arg16839Gly
ENST00000359218.10:c.50314A>G (TTN) ENSP00000352154.5:p.Arg16772Gly
ENST00000342175.10:c.50515A>G (TTN) ENSP00000340554.6:p.Arg16839Gly
ENST00000342992.10:c.69430A>G (TTN) ENSP00000343764.6:p.Arg23144Gly
ENST00000359218.9:c.50314A>G (TTN) ENSP00000352154.5:p.Arg16772Gly
ENST00000460472.6:c.49939A>G (TTN) ENSP00000434586.1:p.Arg16647Gly
ENST00000589042.5:c.77134A>G (TTN) MANE Select ENSP00000467141.1:p.Arg25712Gly
ENST00000591111.5:c.72211A>G (TTN) ENSP00000465570.1:p.Arg24071Gly
ENST00000615779.4:c.72211A>G (TTN) ENSP00000483597.1:p.Arg24071Gly
NM_001256850.1:c.72211A>G (TTN) NP_001243779.1:p.Arg24071Gly
NM_001267550.2:c.77134A>G (TTN) MANE Select NP_001254479.2:p.Arg25712Gly
NM_003319.4:c.49939A>G (TTN) NP_003310.4:p.Arg16647Gly
NM_133378.4:c.69430A>G (TTN) NP_596869.4:p.Arg23144Gly
NM_133432.3:c.50314A>G (TTN) NP_597676.3:p.Arg16772Gly
NM_133437.4:c.50515A>G (TTN) NP_597681.4:p.Arg16839Gly
NR_038271.1:n.447-2302T>C (TTN-AS1)
NR_038272.1:n.2044-13574T>C (TTN-AS1)
XM_011511729.1:c.76231A>G (TTN) XP_011510031.1:p.Arg25411Gly
XM_011511730.1:c.50125A>G (TTN) XP_011510032.1:p.Arg16709Gly
XM_011511731.1:c.49984A>G (TTN) XP_011510033.1:p.Arg16662Gly
XM_017004819.1:c.76027A>G (TTN) XP_016860308.1:p.Arg25343Gly
XM_017004820.1:c.71425A>G (TTN) XP_016860309.1:p.Arg23809Gly
XM_017004821.1:c.71422A>G (TTN) XP_016860310.1:p.Arg23808Gly
XM_017004822.1:c.68464A>G (TTN) XP_016860311.1:p.Arg22822Gly
XM_017004823.1:c.50080A>G (TTN) XP_016860312.1:p.Arg16694Gly
XM_024453094.1:c.71575A>G (TTN) XP_024308862.1:p.Arg23859Gly
XM_024453095.1:c.71572A>G (TTN) XP_024308863.1:p.Arg23858Gly
XM_024453096.1:c.71005A>G (TTN) XP_024308864.1:p.Arg23669Gly
XM_024453097.1:c.68347A>G (TTN) XP_024308865.1:p.Arg22783Gly
XM_024453098.1:c.68266A>G (TTN) XP_024308866.1:p.Arg22756Gly
XM_024453099.1:c.50029A>G (TTN) XP_024308867.1:p.Arg16677Gly
XM_024453100.1:c.39883A>G (TTN) XP_024308868.1:p.Arg13295Gly