Canonical Allele Identifier: CA1310549493

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614745C= , CM000664.2:g.178614745C= GRCh38
NC_000002.11:g.179479472C= , CM000664.1:g.179479472C= GRCh37
NC_000002.10:g.179187717C= NCBI36
NG_011618.3:g.221058G= , LRG_391:g.221058G=
NG_051363.1:g.96919C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41065G= (TTN) ENSP00000343764.6:p.Glu13689=
ENST00000342175.11:c.22150G= (TTN) ENSP00000340554.6:p.Glu7384=
ENST00000359218.10:c.21949G= (TTN) ENSP00000352154.5:p.Glu7317=
ENST00000342175.10:c.22150G= (TTN) ENSP00000340554.6:p.Glu7384=
ENST00000342992.10:c.41065G= (TTN) ENSP00000343764.6:p.Glu13689=
ENST00000359218.9:c.21949G= (TTN) ENSP00000352154.5:p.Glu7317=
ENST00000460472.6:c.21574G= (TTN) ENSP00000434586.1:p.Glu7192=
ENST00000589042.5:c.48769G= (TTN) MANE Select ENSP00000467141.1:p.Glu16257=
ENST00000591111.5:c.43846G= (TTN) ENSP00000465570.1:p.Glu14616=
ENST00000615779.4:c.43846G= (TTN) ENSP00000483597.1:p.Glu14616=
NM_001256850.1:c.43846G= (TTN) NP_001243779.1:p.Glu14616=
NM_001267550.2:c.48769G= (TTN) MANE Select NP_001254479.2:p.Glu16257=
NM_003319.4:c.21574G= (TTN) NP_003310.4:p.Glu7192=
NM_133378.4:c.41065G= (TTN) NP_596869.4:p.Glu13689=
NM_133432.3:c.21949G= (TTN) NP_597676.3:p.Glu7317=
NM_133437.4:c.22150G= (TTN) NP_597681.4:p.Glu7384=
NR_038271.1:n.1493C= (TTN-AS1)
XM_011511729.1:c.47866G= (TTN) XP_011510031.1:p.Glu15956=
XM_011511730.1:c.21760G= (TTN) XP_011510032.1:p.Glu7254=
XM_011511731.1:c.21619G= (TTN) XP_011510033.1:p.Glu7207=
XM_017004819.1:c.47662G= (TTN) XP_016860308.1:p.Glu15888=
XM_017004820.1:c.43060G= (TTN) XP_016860309.1:p.Glu14354=
XM_017004821.1:c.43057G= (TTN) XP_016860310.1:p.Glu14353=
XM_017004822.1:c.40099G= (TTN) XP_016860311.1:p.Glu13367=
XM_017004823.1:c.21715G= (TTN) XP_016860312.1:p.Glu7239=
XM_024453094.1:c.43210G= (TTN) XP_024308862.1:p.Glu14404=
XM_024453095.1:c.43207G= (TTN) XP_024308863.1:p.Glu14403=
XM_024453096.1:c.42640G= (TTN) XP_024308864.1:p.Glu14214=
XM_024453097.1:c.39982G= (TTN) XP_024308865.1:p.Glu13328=
XM_024453098.1:c.39901G= (TTN) XP_024308866.1:p.Glu13301=
XM_024453099.1:c.21664G= (TTN) XP_024308867.1:p.Glu7222=
XM_024453100.1:c.11518G= (TTN) XP_024308868.1:p.Glu3840=