Canonical Allele Identifier: CA349562053
Community Standard Title: NM_001267550.2(TTN):c.53653G>C (p.Glu17885Gln)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178605642C>G , CM000664.2:g.178605642C>G GRCh38
NC_000002.11:g.179470369C>G , CM000664.1:g.179470369C>G GRCh37
NC_000002.10:g.179178614C>G NCBI36
NG_011618.3:g.230161G>C , LRG_391:g.230161G>C
NG_051363.1:g.87816C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53653G>C (TTN) MANE Select NP_001254479.2:p.Glu17885Gln
ENST00000589042.5:c.53653G>C (TTN) MANE Select ENSP00000467141.1:p.Glu17885Gln
NM_001256850.1:c.48730G>C (TTN) NP_001243779.1:p.Glu16244Gln
NM_003319.4:c.26458G>C (TTN) NP_003310.4:p.Glu8820Gln
NM_133378.4:c.45949G>C (TTN) NP_596869.4:p.Glu15317Gln
NM_133432.3:c.26833G>C (TTN) NP_597676.3:p.Glu8945Gln
NM_133437.4:c.27034G>C (TTN) NP_597681.4:p.Glu9012Gln
NR_038271.1:n.683-2525C>G (TTN-AS1)
ENST00000342175.10:c.27034G>C (TTN) ENSP00000340554.6:p.Glu9012Gln
ENST00000342175.11:c.27034G>C (TTN) ENSP00000340554.6:p.Glu9012Gln
ENST00000342992.10:c.45949G>C (TTN) ENSP00000343764.6:p.Glu15317Gln
ENST00000342992.11:c.45949G>C (TTN) ENSP00000343764.6:p.Glu15317Gln
ENST00000359218.10:c.26833G>C (TTN) ENSP00000352154.5:p.Glu8945Gln
ENST00000359218.9:c.26833G>C (TTN) ENSP00000352154.5:p.Glu8945Gln
ENST00000460472.6:c.26458G>C (TTN) ENSP00000434586.1:p.Glu8820Gln
ENST00000591111.5:c.48730G>C (TTN) ENSP00000465570.1:p.Glu16244Gln
ENST00000615779.4:c.48730G>C (TTN) ENSP00000483597.1:p.Glu16244Gln
XM_011511729.1:c.52750G>C (TTN) XP_011510031.1:p.Glu17584Gln
XM_011511730.1:c.26644G>C (TTN) XP_011510032.1:p.Glu8882Gln
XM_011511731.1:c.26503G>C (TTN) XP_011510033.1:p.Glu8835Gln
XM_017004819.1:c.52546G>C (TTN) XP_016860308.1:p.Glu17516Gln
XM_017004820.1:c.47944G>C (TTN) XP_016860309.1:p.Glu15982Gln
XM_017004821.1:c.47941G>C (TTN) XP_016860310.1:p.Glu15981Gln
XM_017004822.1:c.44983G>C (TTN) XP_016860311.1:p.Glu14995Gln
XM_017004823.1:c.26599G>C (TTN) XP_016860312.1:p.Glu8867Gln
XM_024453094.1:c.48094G>C (TTN) XP_024308862.1:p.Glu16032Gln
XM_024453095.1:c.48091G>C (TTN) XP_024308863.1:p.Glu16031Gln
XM_024453096.1:c.47524G>C (TTN) XP_024308864.1:p.Glu15842Gln
XM_024453097.1:c.44866G>C (TTN) XP_024308865.1:p.Glu14956Gln
XM_024453098.1:c.44785G>C (TTN) XP_024308866.1:p.Glu14929Gln
XM_024453099.1:c.26548G>C (TTN) XP_024308867.1:p.Glu8850Gln
XM_024453100.1:c.16402G>C (TTN) XP_024308868.1:p.Glu5468Gln