Canonical Allele Identifier: CA1310549414

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614546C= , CM000664.2:g.178614546C= GRCh38
NC_000002.11:g.179479273C= , CM000664.1:g.179479273C= GRCh37
NC_000002.10:g.179187518C= NCBI36
NG_011618.3:g.221257G= , LRG_391:g.221257G=
NG_051363.1:g.96720C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41264G= (TTN) ENSP00000343764.6:p.Arg13755=
ENST00000342175.11:c.22349G= (TTN) ENSP00000340554.6:p.Arg7450=
ENST00000359218.10:c.22148G= (TTN) ENSP00000352154.5:p.Arg7383=
ENST00000342175.10:c.22349G= (TTN) ENSP00000340554.6:p.Arg7450=
ENST00000342992.10:c.41264G= (TTN) ENSP00000343764.6:p.Arg13755=
ENST00000359218.9:c.22148G= (TTN) ENSP00000352154.5:p.Arg7383=
ENST00000460472.6:c.21773G= (TTN) ENSP00000434586.1:p.Arg7258=
ENST00000589042.5:c.48968G= (TTN) MANE Select ENSP00000467141.1:p.Arg16323=
ENST00000591111.5:c.44045G= (TTN) ENSP00000465570.1:p.Arg14682=
ENST00000615779.4:c.44045G= (TTN) ENSP00000483597.1:p.Arg14682=
NM_001256850.1:c.44045G= (TTN) NP_001243779.1:p.Arg14682=
NM_001267550.2:c.48968G= (TTN) MANE Select NP_001254479.2:p.Arg16323=
NM_003319.4:c.21773G= (TTN) NP_003310.4:p.Arg7258=
NM_133378.4:c.41264G= (TTN) NP_596869.4:p.Arg13755=
NM_133432.3:c.22148G= (TTN) NP_597676.3:p.Arg7383=
NM_133437.4:c.22349G= (TTN) NP_597681.4:p.Arg7450=
NR_038271.1:n.1294C= (TTN-AS1)
XM_011511729.1:c.48065G= (TTN) XP_011510031.1:p.Arg16022=
XM_011511730.1:c.21959G= (TTN) XP_011510032.1:p.Arg7320=
XM_011511731.1:c.21818G= (TTN) XP_011510033.1:p.Arg7273=
XM_017004819.1:c.47861G= (TTN) XP_016860308.1:p.Arg15954=
XM_017004820.1:c.43259G= (TTN) XP_016860309.1:p.Arg14420=
XM_017004821.1:c.43256G= (TTN) XP_016860310.1:p.Arg14419=
XM_017004822.1:c.40298G= (TTN) XP_016860311.1:p.Arg13433=
XM_017004823.1:c.21914G= (TTN) XP_016860312.1:p.Arg7305=
XM_024453094.1:c.43409G= (TTN) XP_024308862.1:p.Arg14470=
XM_024453095.1:c.43406G= (TTN) XP_024308863.1:p.Arg14469=
XM_024453096.1:c.42839G= (TTN) XP_024308864.1:p.Arg14280=
XM_024453097.1:c.40181G= (TTN) XP_024308865.1:p.Arg13394=
XM_024453098.1:c.40100G= (TTN) XP_024308866.1:p.Arg13367=
XM_024453099.1:c.21863G= (TTN) XP_024308867.1:p.Arg7288=
XM_024453100.1:c.11717G= (TTN) XP_024308868.1:p.Arg3906=