Canonical Allele Identifier: CA349511837

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552574T>C , CM000664.2:g.178552574T>C GRCh38
NC_000002.11:g.179417301T>C , CM000664.1:g.179417301T>C GRCh37
NC_000002.10:g.179125547T>C NCBI36
NG_011618.3:g.283229A>G , LRG_391:g.283229A>G
NG_051363.1:g.34748T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82622A>G (TTN) ENSP00000343764.6:p.Lys27541Arg
ENST00000342175.11:c.63707A>G (TTN) ENSP00000340554.6:p.Lys21236Arg
ENST00000359218.10:c.63506A>G (TTN) ENSP00000352154.5:p.Lys21169Arg
ENST00000342175.10:c.63707A>G (TTN) ENSP00000340554.6:p.Lys21236Arg
ENST00000342992.10:c.82622A>G (TTN) ENSP00000343764.6:p.Lys27541Arg
ENST00000359218.9:c.63506A>G (TTN) ENSP00000352154.5:p.Lys21169Arg
ENST00000460472.6:c.63131A>G (TTN) ENSP00000434586.1:p.Lys21044Arg
ENST00000589042.5:c.90326A>G (TTN) MANE Select ENSP00000467141.1:p.Lys30109Arg
ENST00000591111.5:c.85403A>G (TTN) ENSP00000465570.1:p.Lys28468Arg
ENST00000615779.4:c.85403A>G (TTN) ENSP00000483597.1:p.Lys28468Arg
NM_001256850.1:c.85403A>G (TTN) NP_001243779.1:p.Lys28468Arg
NM_001267550.2:c.90326A>G (TTN) MANE Select NP_001254479.2:p.Lys30109Arg
NM_003319.4:c.63131A>G (TTN) NP_003310.4:p.Lys21044Arg
NM_133378.4:c.82622A>G (TTN) NP_596869.4:p.Lys27541Arg
NM_133432.3:c.63506A>G (TTN) NP_597676.3:p.Lys21169Arg
NM_133437.4:c.63707A>G (TTN) NP_597681.4:p.Lys21236Arg
NR_038271.1:n.447-18726T>C (TTN-AS1)
NR_038272.1:n.2043+10213T>C (TTN-AS1)
XM_011511729.1:c.89423A>G (TTN) XP_011510031.1:p.Lys29808Arg
XM_011511730.1:c.63317A>G (TTN) XP_011510032.1:p.Lys21106Arg
XM_011511731.1:c.63176A>G (TTN) XP_011510033.1:p.Lys21059Arg
XM_017004819.1:c.89219A>G (TTN) XP_016860308.1:p.Lys29740Arg
XM_017004820.1:c.84617A>G (TTN) XP_016860309.1:p.Lys28206Arg
XM_017004821.1:c.84614A>G (TTN) XP_016860310.1:p.Lys28205Arg
XM_017004822.1:c.81656A>G (TTN) XP_016860311.1:p.Lys27219Arg
XM_017004823.1:c.63272A>G (TTN) XP_016860312.1:p.Lys21091Arg
XM_024453094.1:c.84767A>G (TTN) XP_024308862.1:p.Lys28256Arg
XM_024453095.1:c.84764A>G (TTN) XP_024308863.1:p.Lys28255Arg
XM_024453096.1:c.84197A>G (TTN) XP_024308864.1:p.Lys28066Arg
XM_024453097.1:c.81539A>G (TTN) XP_024308865.1:p.Lys27180Arg
XM_024453098.1:c.81458A>G (TTN) XP_024308866.1:p.Lys27153Arg
XM_024453099.1:c.63221A>G (TTN) XP_024308867.1:p.Lys21074Arg
XM_024453100.1:c.53075A>G (TTN) XP_024308868.1:p.Lys17692Arg