Canonical Allele Identifier: CA349455984

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544305A>C , CM000664.2:g.178544305A>C GRCh38
NC_000002.11:g.179409032A>C , CM000664.1:g.179409032A>C GRCh37
NC_000002.10:g.179117278A>C NCBI36
NG_011618.3:g.291498T>G , LRG_391:g.291498T>G
NG_051363.1:g.26479A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88220T>G (TTN) ENSP00000343764.6:p.Leu29407Arg
ENST00000342175.11:c.69305T>G (TTN) ENSP00000340554.6:p.Leu23102Arg
ENST00000359218.10:c.69104T>G (TTN) ENSP00000352154.5:p.Leu23035Arg
ENST00000342175.10:c.69305T>G (TTN) ENSP00000340554.6:p.Leu23102Arg
ENST00000342992.10:c.88220T>G (TTN) ENSP00000343764.6:p.Leu29407Arg
ENST00000359218.9:c.69104T>G (TTN) ENSP00000352154.5:p.Leu23035Arg
ENST00000460472.6:c.68729T>G (TTN) ENSP00000434586.1:p.Leu22910Arg
ENST00000589042.5:c.95924T>G (TTN) MANE Select ENSP00000467141.1:p.Leu31975Arg
ENST00000591111.5:c.91001T>G (TTN) ENSP00000465570.1:p.Leu30334Arg
ENST00000615779.4:c.91001T>G (TTN) ENSP00000483597.1:p.Leu30334Arg
NM_001256850.1:c.91001T>G (TTN) NP_001243779.1:p.Leu30334Arg
NM_001267550.2:c.95924T>G (TTN) MANE Select NP_001254479.2:p.Leu31975Arg
NM_003319.4:c.68729T>G (TTN) NP_003310.4:p.Leu22910Arg
NM_133378.4:c.88220T>G (TTN) NP_596869.4:p.Leu29407Arg
NM_133432.3:c.69104T>G (TTN) NP_597676.3:p.Leu23035Arg
NM_133437.4:c.69305T>G (TTN) NP_597681.4:p.Leu23102Arg
NR_038271.1:n.446+20669A>C (TTN-AS1)
NR_038272.1:n.2043+1944A>C (TTN-AS1)
XM_011511729.1:c.95021T>G (TTN) XP_011510031.1:p.Leu31674Arg
XM_011511730.1:c.68915T>G (TTN) XP_011510032.1:p.Leu22972Arg
XM_011511731.1:c.68774T>G (TTN) XP_011510033.1:p.Leu22925Arg
XM_017004819.1:c.94817T>G (TTN) XP_016860308.1:p.Leu31606Arg
XM_017004820.1:c.90215T>G (TTN) XP_016860309.1:p.Leu30072Arg
XM_017004821.1:c.90212T>G (TTN) XP_016860310.1:p.Leu30071Arg
XM_017004822.1:c.87254T>G (TTN) XP_016860311.1:p.Leu29085Arg
XM_017004823.1:c.68870T>G (TTN) XP_016860312.1:p.Leu22957Arg
XM_024453094.1:c.90365T>G (TTN) XP_024308862.1:p.Leu30122Arg
XM_024453095.1:c.90362T>G (TTN) XP_024308863.1:p.Leu30121Arg
XM_024453096.1:c.89795T>G (TTN) XP_024308864.1:p.Leu29932Arg
XM_024453097.1:c.87137T>G (TTN) XP_024308865.1:p.Leu29046Arg
XM_024453098.1:c.87056T>G (TTN) XP_024308866.1:p.Leu29019Arg
XM_024453099.1:c.68819T>G (TTN) XP_024308867.1:p.Leu22940Arg
XM_024453100.1:c.58673T>G (TTN) XP_024308868.1:p.Leu19558Arg