Canonical Allele Identifier: CA349511844

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552575T>C , CM000664.2:g.178552575T>C GRCh38
NC_000002.11:g.179417302T>C , CM000664.1:g.179417302T>C GRCh37
NC_000002.10:g.179125548T>C NCBI36
NG_011618.3:g.283228A>G , LRG_391:g.283228A>G
NG_051363.1:g.34749T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82621A>G (TTN) ENSP00000343764.6:p.Lys27541Glu
ENST00000342175.11:c.63706A>G (TTN) ENSP00000340554.6:p.Lys21236Glu
ENST00000359218.10:c.63505A>G (TTN) ENSP00000352154.5:p.Lys21169Glu
ENST00000342175.10:c.63706A>G (TTN) ENSP00000340554.6:p.Lys21236Glu
ENST00000342992.10:c.82621A>G (TTN) ENSP00000343764.6:p.Lys27541Glu
ENST00000359218.9:c.63505A>G (TTN) ENSP00000352154.5:p.Lys21169Glu
ENST00000460472.6:c.63130A>G (TTN) ENSP00000434586.1:p.Lys21044Glu
ENST00000589042.5:c.90325A>G (TTN) MANE Select ENSP00000467141.1:p.Lys30109Glu
ENST00000591111.5:c.85402A>G (TTN) ENSP00000465570.1:p.Lys28468Glu
ENST00000615779.4:c.85402A>G (TTN) ENSP00000483597.1:p.Lys28468Glu
NM_001256850.1:c.85402A>G (TTN) NP_001243779.1:p.Lys28468Glu
NM_001267550.2:c.90325A>G (TTN) MANE Select NP_001254479.2:p.Lys30109Glu
NM_003319.4:c.63130A>G (TTN) NP_003310.4:p.Lys21044Glu
NM_133378.4:c.82621A>G (TTN) NP_596869.4:p.Lys27541Glu
NM_133432.3:c.63505A>G (TTN) NP_597676.3:p.Lys21169Glu
NM_133437.4:c.63706A>G (TTN) NP_597681.4:p.Lys21236Glu
NR_038271.1:n.447-18725T>C (TTN-AS1)
NR_038272.1:n.2043+10214T>C (TTN-AS1)
XM_011511729.1:c.89422A>G (TTN) XP_011510031.1:p.Lys29808Glu
XM_011511730.1:c.63316A>G (TTN) XP_011510032.1:p.Lys21106Glu
XM_011511731.1:c.63175A>G (TTN) XP_011510033.1:p.Lys21059Glu
XM_017004819.1:c.89218A>G (TTN) XP_016860308.1:p.Lys29740Glu
XM_017004820.1:c.84616A>G (TTN) XP_016860309.1:p.Lys28206Glu
XM_017004821.1:c.84613A>G (TTN) XP_016860310.1:p.Lys28205Glu
XM_017004822.1:c.81655A>G (TTN) XP_016860311.1:p.Lys27219Glu
XM_017004823.1:c.63271A>G (TTN) XP_016860312.1:p.Lys21091Glu
XM_024453094.1:c.84766A>G (TTN) XP_024308862.1:p.Lys28256Glu
XM_024453095.1:c.84763A>G (TTN) XP_024308863.1:p.Lys28255Glu
XM_024453096.1:c.84196A>G (TTN) XP_024308864.1:p.Lys28066Glu
XM_024453097.1:c.81538A>G (TTN) XP_024308865.1:p.Lys27180Glu
XM_024453098.1:c.81457A>G (TTN) XP_024308866.1:p.Lys27153Glu
XM_024453099.1:c.63220A>G (TTN) XP_024308867.1:p.Lys21074Glu
XM_024453100.1:c.53074A>G (TTN) XP_024308868.1:p.Lys17692Glu