Canonical Allele Identifier: CA349541188

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47747A>T (TTN) ENSP00000343764.6:p.Lys15916Ile
ENST00000342175.11:c.28832A>T (TTN) ENSP00000340554.6:p.Lys9611Ile
ENST00000359218.10:c.28631A>T (TTN) ENSP00000352154.5:p.Lys9544Ile
ENST00000342175.10:c.28832A>T (TTN) ENSP00000340554.6:p.Lys9611Ile
ENST00000342992.10:c.47747A>T (TTN) ENSP00000343764.6:p.Lys15916Ile
ENST00000359218.9:c.28631A>T (TTN) ENSP00000352154.5:p.Lys9544Ile
ENST00000460472.6:c.28256A>T (TTN) ENSP00000434586.1:p.Lys9419Ile
ENST00000589042.5:c.55451A>T (TTN) MANE Select ENSP00000467141.1:p.Lys18484Ile
ENST00000591111.5:c.50528A>T (TTN) ENSP00000465570.1:p.Lys16843Ile
ENST00000615779.4:c.50528A>T (TTN) ENSP00000483597.1:p.Lys16843Ile
NM_001256850.1:c.50528A>T (TTN) NP_001243779.1:p.Lys16843Ile
NM_001267550.2:c.55451A>T (TTN) MANE Select NP_001254479.2:p.Lys18484Ile
NM_003319.4:c.28256A>T (TTN) NP_003310.4:p.Lys9419Ile
NM_133378.4:c.47747A>T (TTN) NP_596869.4:p.Lys15916Ile
NM_133432.3:c.28631A>T (TTN) NP_597676.3:p.Lys9544Ile
NM_133437.4:c.28832A>T (TTN) NP_597681.4:p.Lys9611Ile
NR_038271.1:n.682+3865T>A (TTN-AS1)
NR_038272.1:n.3917+879T>A (TTN-AS1)
XM_011511729.1:c.54548A>T (TTN) XP_011510031.1:p.Lys18183Ile
XM_011511730.1:c.28442A>T (TTN) XP_011510032.1:p.Lys9481Ile
XM_011511731.1:c.28301A>T (TTN) XP_011510033.1:p.Lys9434Ile
XM_017004819.1:c.54344A>T (TTN) XP_016860308.1:p.Lys18115Ile
XM_017004820.1:c.49742A>T (TTN) XP_016860309.1:p.Lys16581Ile
XM_017004821.1:c.49739A>T (TTN) XP_016860310.1:p.Lys16580Ile
XM_017004822.1:c.46781A>T (TTN) XP_016860311.1:p.Lys15594Ile
XM_017004823.1:c.28397A>T (TTN) XP_016860312.1:p.Lys9466Ile
XM_024453094.1:c.49892A>T (TTN) XP_024308862.1:p.Lys16631Ile
XM_024453095.1:c.49889A>T (TTN) XP_024308863.1:p.Lys16630Ile
XM_024453096.1:c.49322A>T (TTN) XP_024308864.1:p.Lys16441Ile
XM_024453097.1:c.46664A>T (TTN) XP_024308865.1:p.Lys15555Ile
XM_024453098.1:c.46583A>T (TTN) XP_024308866.1:p.Lys15528Ile
XM_024453099.1:c.28346A>T (TTN) XP_024308867.1:p.Lys9449Ile
XM_024453100.1:c.18200A>T (TTN) XP_024308868.1:p.Lys6067Ile