Canonical Allele Identifier: CA430273516

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614547T>G , CM000664.2:g.178614547T>G GRCh38
NC_000002.11:g.179479274T>G , CM000664.1:g.179479274T>G GRCh37
NC_000002.10:g.179187519T>G NCBI36
NG_011618.3:g.221256A>C , LRG_391:g.221256A>C
NG_051363.1:g.96721T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41263A>C (TTN) ENSP00000343764.6:p.Arg13755=
ENST00000342175.11:c.22348A>C (TTN) ENSP00000340554.6:p.Arg7450=
ENST00000359218.10:c.22147A>C (TTN) ENSP00000352154.5:p.Arg7383=
ENST00000342175.10:c.22348A>C (TTN) ENSP00000340554.6:p.Arg7450=
ENST00000342992.10:c.41263A>C (TTN) ENSP00000343764.6:p.Arg13755=
ENST00000359218.9:c.22147A>C (TTN) ENSP00000352154.5:p.Arg7383=
ENST00000460472.6:c.21772A>C (TTN) ENSP00000434586.1:p.Arg7258=
ENST00000589042.5:c.48967A>C (TTN) MANE Select ENSP00000467141.1:p.Arg16323=
ENST00000591111.5:c.44044A>C (TTN) ENSP00000465570.1:p.Arg14682=
ENST00000615779.4:c.44044A>C (TTN) ENSP00000483597.1:p.Arg14682=
NM_001256850.1:c.44044A>C (TTN) NP_001243779.1:p.Arg14682=
NM_001267550.2:c.48967A>C (TTN) MANE Select NP_001254479.2:p.Arg16323=
NM_003319.4:c.21772A>C (TTN) NP_003310.4:p.Arg7258=
NM_133378.4:c.41263A>C (TTN) NP_596869.4:p.Arg13755=
NM_133432.3:c.22147A>C (TTN) NP_597676.3:p.Arg7383=
NM_133437.4:c.22348A>C (TTN) NP_597681.4:p.Arg7450=
NR_038271.1:n.1295T>G (TTN-AS1)
XM_011511729.1:c.48064A>C (TTN) XP_011510031.1:p.Arg16022=
XM_011511730.1:c.21958A>C (TTN) XP_011510032.1:p.Arg7320=
XM_011511731.1:c.21817A>C (TTN) XP_011510033.1:p.Arg7273=
XM_017004819.1:c.47860A>C (TTN) XP_016860308.1:p.Arg15954=
XM_017004820.1:c.43258A>C (TTN) XP_016860309.1:p.Arg14420=
XM_017004821.1:c.43255A>C (TTN) XP_016860310.1:p.Arg14419=
XM_017004822.1:c.40297A>C (TTN) XP_016860311.1:p.Arg13433=
XM_017004823.1:c.21913A>C (TTN) XP_016860312.1:p.Arg7305=
XM_024453094.1:c.43408A>C (TTN) XP_024308862.1:p.Arg14470=
XM_024453095.1:c.43405A>C (TTN) XP_024308863.1:p.Arg14469=
XM_024453096.1:c.42838A>C (TTN) XP_024308864.1:p.Arg14280=
XM_024453097.1:c.40180A>C (TTN) XP_024308865.1:p.Arg13394=
XM_024453098.1:c.40099A>C (TTN) XP_024308866.1:p.Arg13367=
XM_024453099.1:c.21862A>C (TTN) XP_024308867.1:p.Arg7288=
XM_024453100.1:c.11716A>C (TTN) XP_024308868.1:p.Arg3906=