Canonical Allele Identifier: CA284031

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549838T>A , CM000664.2:g.178549838T>A GRCh38
NC_000002.11:g.179414565T>A , CM000664.1:g.179414565T>A GRCh37
NC_000002.10:g.179122811T>A NCBI36
NG_011618.3:g.285965A>T , LRG_391:g.285965A>T
NG_051363.1:g.32012T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84180A>T (TTN) ENSP00000343764.6:p.Arg28060Ser
ENST00000342175.11:c.65265A>T (TTN) ENSP00000340554.6:p.Arg21755Ser
ENST00000359218.10:c.65064A>T (TTN) ENSP00000352154.5:p.Arg21688Ser
ENST00000342175.10:c.65265A>T (TTN) ENSP00000340554.6:p.Arg21755Ser
ENST00000342992.10:c.84180A>T (TTN) ENSP00000343764.6:p.Arg28060Ser
ENST00000359218.9:c.65064A>T (TTN) ENSP00000352154.5:p.Arg21688Ser
ENST00000460472.6:c.64689A>T (TTN) ENSP00000434586.1:p.Arg21563Ser
ENST00000589042.5:c.91884A>T (TTN) MANE Select ENSP00000467141.1:p.Arg30628Ser
ENST00000591111.5:c.86961A>T (TTN) ENSP00000465570.1:p.Arg28987Ser
ENST00000615779.4:c.86961A>T (TTN) ENSP00000483597.1:p.Arg28987Ser
NM_001256850.1:c.86961A>T (TTN) NP_001243779.1:p.Arg28987Ser
NM_001267550.2:c.91884A>T (TTN) MANE Select NP_001254479.2:p.Arg30628Ser
NM_003319.4:c.64689A>T (TTN) NP_003310.4:p.Arg21563Ser
NM_133378.4:c.84180A>T (TTN) NP_596869.4:p.Arg28060Ser
NM_133432.3:c.65064A>T (TTN) NP_597676.3:p.Arg21688Ser
NM_133437.4:c.65265A>T (TTN) NP_597681.4:p.Arg21755Ser
NR_038271.1:n.447-21462T>A (TTN-AS1)
NR_038272.1:n.2043+7477T>A (TTN-AS1)
XM_011511729.1:c.90981A>T (TTN) XP_011510031.1:p.Arg30327Ser
XM_011511730.1:c.64875A>T (TTN) XP_011510032.1:p.Arg21625Ser
XM_011511731.1:c.64734A>T (TTN) XP_011510033.1:p.Arg21578Ser
XM_017004819.1:c.90777A>T (TTN) XP_016860308.1:p.Arg30259Ser
XM_017004820.1:c.86175A>T (TTN) XP_016860309.1:p.Arg28725Ser
XM_017004821.1:c.86172A>T (TTN) XP_016860310.1:p.Arg28724Ser
XM_017004822.1:c.83214A>T (TTN) XP_016860311.1:p.Arg27738Ser
XM_017004823.1:c.64830A>T (TTN) XP_016860312.1:p.Arg21610Ser
XM_024453094.1:c.86325A>T (TTN) XP_024308862.1:p.Arg28775Ser
XM_024453095.1:c.86322A>T (TTN) XP_024308863.1:p.Arg28774Ser
XM_024453096.1:c.85755A>T (TTN) XP_024308864.1:p.Arg28585Ser
XM_024453097.1:c.83097A>T (TTN) XP_024308865.1:p.Arg27699Ser
XM_024453098.1:c.83016A>T (TTN) XP_024308866.1:p.Arg27672Ser
XM_024453099.1:c.64779A>T (TTN) XP_024308867.1:p.Arg21593Ser
XM_024453100.1:c.54633A>T (TTN) XP_024308868.1:p.Arg18211Ser