Canonical Allele Identifier: CA349411612

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532136T>A , CM000664.2:g.178532136T>A GRCh38
NC_000002.11:g.179396863T>A , CM000664.1:g.179396863T>A GRCh37
NC_000002.10:g.179105109T>A NCBI36
NG_011618.3:g.303667A>T , LRG_391:g.303667A>T
NG_051363.1:g.14310T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96775A>T (TTN) ENSP00000343764.6:p.Arg32259Ter
ENST00000342175.11:c.77860A>T (TTN) ENSP00000340554.6:p.Arg25954Ter
ENST00000359218.10:c.77659A>T (TTN) ENSP00000352154.5:p.Arg25887Ter
ENST00000342175.10:c.77860A>T (TTN) ENSP00000340554.6:p.Arg25954Ter
ENST00000342992.10:c.96775A>T (TTN) ENSP00000343764.6:p.Arg32259Ter
ENST00000359218.9:c.77659A>T (TTN) ENSP00000352154.5:p.Arg25887Ter
ENST00000460472.6:c.77284A>T (TTN) ENSP00000434586.1:p.Arg25762Ter
ENST00000589042.5:c.104479A>T (TTN) MANE Select ENSP00000467141.1:p.Arg34827Ter
ENST00000591111.5:c.99556A>T (TTN) ENSP00000465570.1:p.Arg33186Ter
ENST00000615779.4:c.99556A>T (TTN) ENSP00000483597.1:p.Arg33186Ter
NM_001256850.1:c.99556A>T (TTN) NP_001243779.1:p.Arg33186Ter
NM_001267550.2:c.104479A>T (TTN) MANE Select NP_001254479.2:p.Arg34827Ter
NM_003319.4:c.77284A>T (TTN) NP_003310.4:p.Arg25762Ter
NM_133378.4:c.96775A>T (TTN) NP_596869.4:p.Arg32259Ter
NM_133432.3:c.77659A>T (TTN) NP_597676.3:p.Arg25887Ter
NM_133437.4:c.77860A>T (TTN) NP_597681.4:p.Arg25954Ter
NR_038271.1:n.446+8500T>A (TTN-AS1)
NR_038272.1:n.220-3596T>A (TTN-AS1)
XM_011511729.1:c.103576A>T (TTN) XP_011510031.1:p.Arg34526Ter
XM_011511730.1:c.77470A>T (TTN) XP_011510032.1:p.Arg25824Ter
XM_011511731.1:c.77329A>T (TTN) XP_011510033.1:p.Arg25777Ter
XM_017004819.1:c.103372A>T (TTN) XP_016860308.1:p.Arg34458Ter
XM_017004820.1:c.98770A>T (TTN) XP_016860309.1:p.Arg32924Ter
XM_017004821.1:c.98767A>T (TTN) XP_016860310.1:p.Arg32923Ter
XM_017004822.1:c.95809A>T (TTN) XP_016860311.1:p.Arg31937Ter
XM_017004823.1:c.77425A>T (TTN) XP_016860312.1:p.Arg25809Ter
XM_024453094.1:c.98920A>T (TTN) XP_024308862.1:p.Arg32974Ter
XM_024453095.1:c.98917A>T (TTN) XP_024308863.1:p.Arg32973Ter
XM_024453096.1:c.98350A>T (TTN) XP_024308864.1:p.Arg32784Ter
XM_024453097.1:c.95692A>T (TTN) XP_024308865.1:p.Arg31898Ter
XM_024453098.1:c.95611A>T (TTN) XP_024308866.1:p.Arg31871Ter
XM_024453099.1:c.77374A>T (TTN) XP_024308867.1:p.Arg25792Ter
XM_024453100.1:c.67228A>T (TTN) XP_024308868.1:p.Arg22410Ter