Canonical Allele Identifier: CA349411610

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532135C>T , CM000664.2:g.178532135C>T GRCh38
NC_000002.11:g.179396862C>T , CM000664.1:g.179396862C>T GRCh37
NC_000002.10:g.179105108C>T NCBI36
NG_011618.3:g.303668G>A , LRG_391:g.303668G>A
NG_051363.1:g.14309C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96776G>A (TTN) ENSP00000343764.6:p.Arg32259Lys
ENST00000342175.11:c.77861G>A (TTN) ENSP00000340554.6:p.Arg25954Lys
ENST00000359218.10:c.77660G>A (TTN) ENSP00000352154.5:p.Arg25887Lys
ENST00000342175.10:c.77861G>A (TTN) ENSP00000340554.6:p.Arg25954Lys
ENST00000342992.10:c.96776G>A (TTN) ENSP00000343764.6:p.Arg32259Lys
ENST00000359218.9:c.77660G>A (TTN) ENSP00000352154.5:p.Arg25887Lys
ENST00000460472.6:c.77285G>A (TTN) ENSP00000434586.1:p.Arg25762Lys
ENST00000589042.5:c.104480G>A (TTN) MANE Select ENSP00000467141.1:p.Arg34827Lys
ENST00000591111.5:c.99557G>A (TTN) ENSP00000465570.1:p.Arg33186Lys
ENST00000615779.4:c.99557G>A (TTN) ENSP00000483597.1:p.Arg33186Lys
NM_001256850.1:c.99557G>A (TTN) NP_001243779.1:p.Arg33186Lys
NM_001267550.2:c.104480G>A (TTN) MANE Select NP_001254479.2:p.Arg34827Lys
NM_003319.4:c.77285G>A (TTN) NP_003310.4:p.Arg25762Lys
NM_133378.4:c.96776G>A (TTN) NP_596869.4:p.Arg32259Lys
NM_133432.3:c.77660G>A (TTN) NP_597676.3:p.Arg25887Lys
NM_133437.4:c.77861G>A (TTN) NP_597681.4:p.Arg25954Lys
NR_038271.1:n.446+8499C>T (TTN-AS1)
NR_038272.1:n.220-3597C>T (TTN-AS1)
XM_011511729.1:c.103577G>A (TTN) XP_011510031.1:p.Arg34526Lys
XM_011511730.1:c.77471G>A (TTN) XP_011510032.1:p.Arg25824Lys
XM_011511731.1:c.77330G>A (TTN) XP_011510033.1:p.Arg25777Lys
XM_017004819.1:c.103373G>A (TTN) XP_016860308.1:p.Arg34458Lys
XM_017004820.1:c.98771G>A (TTN) XP_016860309.1:p.Arg32924Lys
XM_017004821.1:c.98768G>A (TTN) XP_016860310.1:p.Arg32923Lys
XM_017004822.1:c.95810G>A (TTN) XP_016860311.1:p.Arg31937Lys
XM_017004823.1:c.77426G>A (TTN) XP_016860312.1:p.Arg25809Lys
XM_024453094.1:c.98921G>A (TTN) XP_024308862.1:p.Arg32974Lys
XM_024453095.1:c.98918G>A (TTN) XP_024308863.1:p.Arg32973Lys
XM_024453096.1:c.98351G>A (TTN) XP_024308864.1:p.Arg32784Lys
XM_024453097.1:c.95693G>A (TTN) XP_024308865.1:p.Arg31898Lys
XM_024453098.1:c.95612G>A (TTN) XP_024308866.1:p.Arg31871Lys
XM_024453099.1:c.77375G>A (TTN) XP_024308867.1:p.Arg25792Lys
XM_024453100.1:c.67229G>A (TTN) XP_024308868.1:p.Arg22410Lys