Canonical Allele Identifier: CA349608057

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41065G>T (TTN) ENSP00000343764.6:p.Glu13689Ter
ENST00000342175.11:c.22150G>T (TTN) ENSP00000340554.6:p.Glu7384Ter
ENST00000359218.10:c.21949G>T (TTN) ENSP00000352154.5:p.Glu7317Ter
ENST00000342175.10:c.22150G>T (TTN) ENSP00000340554.6:p.Glu7384Ter
ENST00000342992.10:c.41065G>T (TTN) ENSP00000343764.6:p.Glu13689Ter
ENST00000359218.9:c.21949G>T (TTN) ENSP00000352154.5:p.Glu7317Ter
ENST00000460472.6:c.21574G>T (TTN) ENSP00000434586.1:p.Glu7192Ter
ENST00000589042.5:c.48769G>T (TTN) MANE Select ENSP00000467141.1:p.Glu16257Ter
ENST00000591111.5:c.43846G>T (TTN) ENSP00000465570.1:p.Glu14616Ter
ENST00000615779.4:c.43846G>T (TTN) ENSP00000483597.1:p.Glu14616Ter
NM_001256850.1:c.43846G>T (TTN) NP_001243779.1:p.Glu14616Ter
NM_001267550.2:c.48769G>T (TTN) MANE Select NP_001254479.2:p.Glu16257Ter
NM_003319.4:c.21574G>T (TTN) NP_003310.4:p.Glu7192Ter
NM_133378.4:c.41065G>T (TTN) NP_596869.4:p.Glu13689Ter
NM_133432.3:c.21949G>T (TTN) NP_597676.3:p.Glu7317Ter
NM_133437.4:c.22150G>T (TTN) NP_597681.4:p.Glu7384Ter
NR_038271.1:n.1493C>A (TTN-AS1)
XM_011511729.1:c.47866G>T (TTN) XP_011510031.1:p.Glu15956Ter
XM_011511730.1:c.21760G>T (TTN) XP_011510032.1:p.Glu7254Ter
XM_011511731.1:c.21619G>T (TTN) XP_011510033.1:p.Glu7207Ter
XM_017004819.1:c.47662G>T (TTN) XP_016860308.1:p.Glu15888Ter
XM_017004820.1:c.43060G>T (TTN) XP_016860309.1:p.Glu14354Ter
XM_017004821.1:c.43057G>T (TTN) XP_016860310.1:p.Glu14353Ter
XM_017004822.1:c.40099G>T (TTN) XP_016860311.1:p.Glu13367Ter
XM_017004823.1:c.21715G>T (TTN) XP_016860312.1:p.Glu7239Ter
XM_024453094.1:c.43210G>T (TTN) XP_024308862.1:p.Glu14404Ter
XM_024453095.1:c.43207G>T (TTN) XP_024308863.1:p.Glu14403Ter
XM_024453096.1:c.42640G>T (TTN) XP_024308864.1:p.Glu14214Ter
XM_024453097.1:c.39982G>T (TTN) XP_024308865.1:p.Glu13328Ter
XM_024453098.1:c.39901G>T (TTN) XP_024308866.1:p.Glu13301Ter
XM_024453099.1:c.21664G>T (TTN) XP_024308867.1:p.Glu7222Ter
XM_024453100.1:c.11518G>T (TTN) XP_024308868.1:p.Glu3840Ter