Canonical Allele Identifier: CA349511841

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82621A>T (TTN) ENSP00000343764.6:p.Lys27541Ter
ENST00000342175.11:c.63706A>T (TTN) ENSP00000340554.6:p.Lys21236Ter
ENST00000359218.10:c.63505A>T (TTN) ENSP00000352154.5:p.Lys21169Ter
ENST00000342175.10:c.63706A>T (TTN) ENSP00000340554.6:p.Lys21236Ter
ENST00000342992.10:c.82621A>T (TTN) ENSP00000343764.6:p.Lys27541Ter
ENST00000359218.9:c.63505A>T (TTN) ENSP00000352154.5:p.Lys21169Ter
ENST00000460472.6:c.63130A>T (TTN) ENSP00000434586.1:p.Lys21044Ter
ENST00000589042.5:c.90325A>T (TTN) MANE Select ENSP00000467141.1:p.Lys30109Ter
ENST00000591111.5:c.85402A>T (TTN) ENSP00000465570.1:p.Lys28468Ter
ENST00000615779.4:c.85402A>T (TTN) ENSP00000483597.1:p.Lys28468Ter
NM_001256850.1:c.85402A>T (TTN) NP_001243779.1:p.Lys28468Ter
NM_001267550.2:c.90325A>T (TTN) MANE Select NP_001254479.2:p.Lys30109Ter
NM_003319.4:c.63130A>T (TTN) NP_003310.4:p.Lys21044Ter
NM_133378.4:c.82621A>T (TTN) NP_596869.4:p.Lys27541Ter
NM_133432.3:c.63505A>T (TTN) NP_597676.3:p.Lys21169Ter
NM_133437.4:c.63706A>T (TTN) NP_597681.4:p.Lys21236Ter
NR_038271.1:n.447-18725T>A (TTN-AS1)
NR_038272.1:n.2043+10214T>A (TTN-AS1)
XM_011511729.1:c.89422A>T (TTN) XP_011510031.1:p.Lys29808Ter
XM_011511730.1:c.63316A>T (TTN) XP_011510032.1:p.Lys21106Ter
XM_011511731.1:c.63175A>T (TTN) XP_011510033.1:p.Lys21059Ter
XM_017004819.1:c.89218A>T (TTN) XP_016860308.1:p.Lys29740Ter
XM_017004820.1:c.84616A>T (TTN) XP_016860309.1:p.Lys28206Ter
XM_017004821.1:c.84613A>T (TTN) XP_016860310.1:p.Lys28205Ter
XM_017004822.1:c.81655A>T (TTN) XP_016860311.1:p.Lys27219Ter
XM_017004823.1:c.63271A>T (TTN) XP_016860312.1:p.Lys21091Ter
XM_024453094.1:c.84766A>T (TTN) XP_024308862.1:p.Lys28256Ter
XM_024453095.1:c.84763A>T (TTN) XP_024308863.1:p.Lys28255Ter
XM_024453096.1:c.84196A>T (TTN) XP_024308864.1:p.Lys28066Ter
XM_024453097.1:c.81538A>T (TTN) XP_024308865.1:p.Lys27180Ter
XM_024453098.1:c.81457A>T (TTN) XP_024308866.1:p.Lys27153Ter
XM_024453099.1:c.63220A>T (TTN) XP_024308867.1:p.Lys21074Ter
XM_024453100.1:c.53074A>T (TTN) XP_024308868.1:p.Lys17692Ter