Canonical Allele Identifier: CA349541761

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601694C>G , CM000664.2:g.178601694C>G GRCh38
NC_000002.11:g.179466421C>G , CM000664.1:g.179466421C>G GRCh37
NC_000002.10:g.179174666C>G NCBI36
NG_011618.3:g.234109G>C , LRG_391:g.234109G>C
NG_051363.1:g.83868C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.47692G>C (TTN) ENSP00000343764.6:p.Gly15898Arg
ENST00000342175.11:c.28777G>C (TTN) ENSP00000340554.6:p.Gly9593Arg
ENST00000359218.10:c.28576G>C (TTN) ENSP00000352154.5:p.Gly9526Arg
ENST00000342175.10:c.28777G>C (TTN) ENSP00000340554.6:p.Gly9593Arg
ENST00000342992.10:c.47692G>C (TTN) ENSP00000343764.6:p.Gly15898Arg
ENST00000359218.9:c.28576G>C (TTN) ENSP00000352154.5:p.Gly9526Arg
ENST00000460472.6:c.28201G>C (TTN) ENSP00000434586.1:p.Gly9401Arg
ENST00000589042.5:c.55396G>C (TTN) MANE Select ENSP00000467141.1:p.Gly18466Arg
ENST00000591111.5:c.50473G>C (TTN) ENSP00000465570.1:p.Gly16825Arg
ENST00000615779.4:c.50473G>C (TTN) ENSP00000483597.1:p.Gly16825Arg
NM_001256850.1:c.50473G>C (TTN) NP_001243779.1:p.Gly16825Arg
NM_001267550.2:c.55396G>C (TTN) MANE Select NP_001254479.2:p.Gly18466Arg
NM_003319.4:c.28201G>C (TTN) NP_003310.4:p.Gly9401Arg
NM_133378.4:c.47692G>C (TTN) NP_596869.4:p.Gly15898Arg
NM_133432.3:c.28576G>C (TTN) NP_597676.3:p.Gly9526Arg
NM_133437.4:c.28777G>C (TTN) NP_597681.4:p.Gly9593Arg
NR_038271.1:n.682+4013C>G (TTN-AS1)
NR_038272.1:n.3917+1027C>G (TTN-AS1)
XM_011511729.1:c.54493G>C (TTN) XP_011510031.1:p.Gly18165Arg
XM_011511730.1:c.28387G>C (TTN) XP_011510032.1:p.Gly9463Arg
XM_011511731.1:c.28246G>C (TTN) XP_011510033.1:p.Gly9416Arg
XM_017004819.1:c.54289G>C (TTN) XP_016860308.1:p.Gly18097Arg
XM_017004820.1:c.49687G>C (TTN) XP_016860309.1:p.Gly16563Arg
XM_017004821.1:c.49684G>C (TTN) XP_016860310.1:p.Gly16562Arg
XM_017004822.1:c.46726G>C (TTN) XP_016860311.1:p.Gly15576Arg
XM_017004823.1:c.28342G>C (TTN) XP_016860312.1:p.Gly9448Arg
XM_024453094.1:c.49837G>C (TTN) XP_024308862.1:p.Gly16613Arg
XM_024453095.1:c.49834G>C (TTN) XP_024308863.1:p.Gly16612Arg
XM_024453096.1:c.49267G>C (TTN) XP_024308864.1:p.Gly16423Arg
XM_024453097.1:c.46609G>C (TTN) XP_024308865.1:p.Gly15537Arg
XM_024453098.1:c.46528G>C (TTN) XP_024308866.1:p.Gly15510Arg
XM_024453099.1:c.28291G>C (TTN) XP_024308867.1:p.Gly9431Arg
XM_024453100.1:c.18145G>C (TTN) XP_024308868.1:p.Gly6049Arg