Canonical Allele Identifier: CA1985285

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531344C>G , CM000664.2:g.178531344C>G GRCh38
NC_000002.11:g.179396071C>G , CM000664.1:g.179396071C>G GRCh37
NC_000002.10:g.179104317C>G NCBI36
NG_011618.3:g.304459G>C , LRG_391:g.304459G>C
NG_051363.1:g.13518C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.97567G>C (TTN) ENSP00000343764.6:p.Glu32523Gln
ENST00000342175.11:c.78652G>C (TTN) ENSP00000340554.6:p.Glu26218Gln
ENST00000359218.10:c.78451G>C (TTN) ENSP00000352154.5:p.Glu26151Gln
ENST00000342175.10:c.78652G>C (TTN) ENSP00000340554.6:p.Glu26218Gln
ENST00000342992.10:c.97567G>C (TTN) ENSP00000343764.6:p.Glu32523Gln
ENST00000359218.9:c.78451G>C (TTN) ENSP00000352154.5:p.Glu26151Gln
ENST00000460472.6:c.78076G>C (TTN) ENSP00000434586.1:p.Glu26026Gln
ENST00000589042.5:c.105271G>C (TTN) MANE Select ENSP00000467141.1:p.Glu35091Gln
ENST00000591111.5:c.100348G>C (TTN) ENSP00000465570.1:p.Glu33450Gln
ENST00000615779.4:c.100348G>C (TTN) ENSP00000483597.1:p.Glu33450Gln
NM_001256850.1:c.100348G>C (TTN) NP_001243779.1:p.Glu33450Gln
NM_001267550.2:c.105271G>C (TTN) MANE Select NP_001254479.2:p.Glu35091Gln
NM_003319.4:c.78076G>C (TTN) NP_003310.4:p.Glu26026Gln
NM_133378.4:c.97567G>C (TTN) NP_596869.4:p.Glu32523Gln
NM_133432.3:c.78451G>C (TTN) NP_597676.3:p.Glu26151Gln
NM_133437.4:c.78652G>C (TTN) NP_597681.4:p.Glu26218Gln
NR_038271.1:n.446+7708C>G (TTN-AS1)
NR_038272.1:n.220-4388C>G (TTN-AS1)
XM_011511729.1:c.104368G>C (TTN) XP_011510031.1:p.Glu34790Gln
XM_011511730.1:c.78262G>C (TTN) XP_011510032.1:p.Glu26088Gln
XM_011511731.1:c.78121G>C (TTN) XP_011510033.1:p.Glu26041Gln
XM_017004819.1:c.104164G>C (TTN) XP_016860308.1:p.Glu34722Gln
XM_017004820.1:c.99562G>C (TTN) XP_016860309.1:p.Glu33188Gln
XM_017004821.1:c.99559G>C (TTN) XP_016860310.1:p.Glu33187Gln
XM_017004822.1:c.96601G>C (TTN) XP_016860311.1:p.Glu32201Gln
XM_017004823.1:c.78217G>C (TTN) XP_016860312.1:p.Glu26073Gln
XM_024453094.1:c.99712G>C (TTN) XP_024308862.1:p.Glu33238Gln
XM_024453095.1:c.99709G>C (TTN) XP_024308863.1:p.Glu33237Gln
XM_024453096.1:c.99142G>C (TTN) XP_024308864.1:p.Glu33048Gln
XM_024453097.1:c.96484G>C (TTN) XP_024308865.1:p.Glu32162Gln
XM_024453098.1:c.96403G>C (TTN) XP_024308866.1:p.Glu32135Gln
XM_024453099.1:c.78166G>C (TTN) XP_024308867.1:p.Glu26056Gln
XM_024453100.1:c.68020G>C (TTN) XP_024308868.1:p.Glu22674Gln