Canonical Allele Identifier: CA349405585

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530103C>T , CM000664.2:g.178530103C>T GRCh38
NC_000002.11:g.179394830C>T , CM000664.1:g.179394830C>T GRCh37
NC_000002.10:g.179103076C>T NCBI36
NG_011618.3:g.305700G>A , LRG_391:g.305700G>A
NG_051363.1:g.12277C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98684G>A (TTN) ENSP00000343764.6:p.Gly32895Glu
ENST00000342175.11:c.79769G>A (TTN) ENSP00000340554.6:p.Gly26590Glu
ENST00000359218.10:c.79568G>A (TTN) ENSP00000352154.5:p.Gly26523Glu
ENST00000342175.10:c.79769G>A (TTN) ENSP00000340554.6:p.Gly26590Glu
ENST00000342992.10:c.98684G>A (TTN) ENSP00000343764.6:p.Gly32895Glu
ENST00000359218.9:c.79568G>A (TTN) ENSP00000352154.5:p.Gly26523Glu
ENST00000460472.6:c.79193G>A (TTN) ENSP00000434586.1:p.Gly26398Glu
ENST00000589042.5:c.106388G>A (TTN) MANE Select ENSP00000467141.1:p.Gly35463Glu
ENST00000591111.5:c.101465G>A (TTN) ENSP00000465570.1:p.Gly33822Glu
ENST00000615779.4:c.101465G>A (TTN) ENSP00000483597.1:p.Gly33822Glu
NM_001256850.1:c.101465G>A (TTN) NP_001243779.1:p.Gly33822Glu
NM_001267550.2:c.106388G>A (TTN) MANE Select NP_001254479.2:p.Gly35463Glu
NM_003319.4:c.79193G>A (TTN) NP_003310.4:p.Gly26398Glu
NM_133378.4:c.98684G>A (TTN) NP_596869.4:p.Gly32895Glu
NM_133432.3:c.79568G>A (TTN) NP_597676.3:p.Gly26523Glu
NM_133437.4:c.79769G>A (TTN) NP_597681.4:p.Gly26590Glu
NR_038271.1:n.446+6467C>T (TTN-AS1)
NR_038272.1:n.220-5629C>T (TTN-AS1)
XM_011511729.1:c.105485G>A (TTN) XP_011510031.1:p.Gly35162Glu
XM_011511730.1:c.79379G>A (TTN) XP_011510032.1:p.Gly26460Glu
XM_011511731.1:c.79238G>A (TTN) XP_011510033.1:p.Gly26413Glu
XM_017004819.1:c.105281G>A (TTN) XP_016860308.1:p.Gly35094Glu
XM_017004820.1:c.100679G>A (TTN) XP_016860309.1:p.Gly33560Glu
XM_017004821.1:c.100676G>A (TTN) XP_016860310.1:p.Gly33559Glu
XM_017004822.1:c.97718G>A (TTN) XP_016860311.1:p.Gly32573Glu
XM_017004823.1:c.79334G>A (TTN) XP_016860312.1:p.Gly26445Glu
XM_024453094.1:c.100829G>A (TTN) XP_024308862.1:p.Gly33610Glu
XM_024453095.1:c.100826G>A (TTN) XP_024308863.1:p.Gly33609Glu
XM_024453096.1:c.100259G>A (TTN) XP_024308864.1:p.Gly33420Glu
XM_024453097.1:c.97601G>A (TTN) XP_024308865.1:p.Gly32534Glu
XM_024453098.1:c.97520G>A (TTN) XP_024308866.1:p.Gly32507Glu
XM_024453099.1:c.79283G>A (TTN) XP_024308867.1:p.Gly26428Glu
XM_024453100.1:c.69137G>A (TTN) XP_024308868.1:p.Gly23046Glu