Canonical Allele Identifier: CA349541189

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601546T>C , CM000664.2:g.178601546T>C GRCh38
NC_000002.11:g.179466273T>C , CM000664.1:g.179466273T>C GRCh37
NC_000002.10:g.179174518T>C NCBI36
NG_011618.3:g.234257A>G , LRG_391:g.234257A>G
NG_051363.1:g.83720T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47747A>G (TTN) ENSP00000343764.6:p.Lys15916Arg
ENST00000342175.11:c.28832A>G (TTN) ENSP00000340554.6:p.Lys9611Arg
ENST00000359218.10:c.28631A>G (TTN) ENSP00000352154.5:p.Lys9544Arg
ENST00000342175.10:c.28832A>G (TTN) ENSP00000340554.6:p.Lys9611Arg
ENST00000342992.10:c.47747A>G (TTN) ENSP00000343764.6:p.Lys15916Arg
ENST00000359218.9:c.28631A>G (TTN) ENSP00000352154.5:p.Lys9544Arg
ENST00000460472.6:c.28256A>G (TTN) ENSP00000434586.1:p.Lys9419Arg
ENST00000589042.5:c.55451A>G (TTN) MANE Select ENSP00000467141.1:p.Lys18484Arg
ENST00000591111.5:c.50528A>G (TTN) ENSP00000465570.1:p.Lys16843Arg
ENST00000615779.4:c.50528A>G (TTN) ENSP00000483597.1:p.Lys16843Arg
NM_001256850.1:c.50528A>G (TTN) NP_001243779.1:p.Lys16843Arg
NM_001267550.2:c.55451A>G (TTN) MANE Select NP_001254479.2:p.Lys18484Arg
NM_003319.4:c.28256A>G (TTN) NP_003310.4:p.Lys9419Arg
NM_133378.4:c.47747A>G (TTN) NP_596869.4:p.Lys15916Arg
NM_133432.3:c.28631A>G (TTN) NP_597676.3:p.Lys9544Arg
NM_133437.4:c.28832A>G (TTN) NP_597681.4:p.Lys9611Arg
NR_038271.1:n.682+3865T>C (TTN-AS1)
NR_038272.1:n.3917+879T>C (TTN-AS1)
XM_011511729.1:c.54548A>G (TTN) XP_011510031.1:p.Lys18183Arg
XM_011511730.1:c.28442A>G (TTN) XP_011510032.1:p.Lys9481Arg
XM_011511731.1:c.28301A>G (TTN) XP_011510033.1:p.Lys9434Arg
XM_017004819.1:c.54344A>G (TTN) XP_016860308.1:p.Lys18115Arg
XM_017004820.1:c.49742A>G (TTN) XP_016860309.1:p.Lys16581Arg
XM_017004821.1:c.49739A>G (TTN) XP_016860310.1:p.Lys16580Arg
XM_017004822.1:c.46781A>G (TTN) XP_016860311.1:p.Lys15594Arg
XM_017004823.1:c.28397A>G (TTN) XP_016860312.1:p.Lys9466Arg
XM_024453094.1:c.49892A>G (TTN) XP_024308862.1:p.Lys16631Arg
XM_024453095.1:c.49889A>G (TTN) XP_024308863.1:p.Lys16630Arg
XM_024453096.1:c.49322A>G (TTN) XP_024308864.1:p.Lys16441Arg
XM_024453097.1:c.46664A>G (TTN) XP_024308865.1:p.Lys15555Arg
XM_024453098.1:c.46583A>G (TTN) XP_024308866.1:p.Lys15528Arg
XM_024453099.1:c.28346A>G (TTN) XP_024308867.1:p.Lys9449Arg
XM_024453100.1:c.18200A>G (TTN) XP_024308868.1:p.Lys6067Arg