Canonical Allele Identifier: CA1310539741
Community Standard Title: NM_001267550.2(TTN):c.60733C= (p.Arg20245=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590992G= , CM000664.2:g.178590992G= GRCh38
NC_000002.11:g.179455719G= , CM000664.1:g.179455719G= GRCh37
NC_000002.10:g.179163965G= NCBI36
NG_011618.3:g.244811C= , LRG_391:g.244811C=
NG_051363.1:g.73166G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.60733C= (TTN) MANE Select NP_001254479.2:p.Arg20245=
ENST00000589042.5:c.60733C= (TTN) MANE Select ENSP00000467141.1:p.Arg20245=
NM_001256850.1:c.55810C= (TTN) NP_001243779.1:p.Arg18604=
NM_003319.4:c.33538C= (TTN) NP_003310.4:p.Arg11180=
NM_133378.4:c.53029C= (TTN) NP_596869.4:p.Arg17677=
NM_133432.3:c.33913C= (TTN) NP_597676.3:p.Arg11305=
NM_133437.4:c.34114C= (TTN) NP_597681.4:p.Arg11372=
NR_038271.1:n.597-6604G= (TTN-AS1)
NR_038272.1:n.3189-147G= (TTN-AS1)
ENST00000342175.10:c.34114C= (TTN) ENSP00000340554.6:p.Arg11372=
ENST00000342175.11:c.34114C= (TTN) ENSP00000340554.6:p.Arg11372=
ENST00000342992.10:c.53029C= (TTN) ENSP00000343764.6:p.Arg17677=
ENST00000342992.11:c.53029C= (TTN) ENSP00000343764.6:p.Arg17677=
ENST00000359218.10:c.33913C= (TTN) ENSP00000352154.5:p.Arg11305=
ENST00000359218.9:c.33913C= (TTN) ENSP00000352154.5:p.Arg11305=
ENST00000460472.6:c.33538C= (TTN) ENSP00000434586.1:p.Arg11180=
ENST00000591111.5:c.55810C= (TTN) ENSP00000465570.1:p.Arg18604=
ENST00000615779.4:c.55810C= (TTN) ENSP00000483597.1:p.Arg18604=
XM_011511729.1:c.59830C= (TTN) XP_011510031.1:p.Arg19944=
XM_011511730.1:c.33724C= (TTN) XP_011510032.1:p.Arg11242=
XM_011511731.1:c.33583C= (TTN) XP_011510033.1:p.Arg11195=
XM_017004819.1:c.59626C= (TTN) XP_016860308.1:p.Arg19876=
XM_017004820.1:c.55024C= (TTN) XP_016860309.1:p.Arg18342=
XM_017004821.1:c.55021C= (TTN) XP_016860310.1:p.Arg18341=
XM_017004822.1:c.52063C= (TTN) XP_016860311.1:p.Arg17355=
XM_017004823.1:c.33679C= (TTN) XP_016860312.1:p.Arg11227=
XM_024453094.1:c.55174C= (TTN) XP_024308862.1:p.Arg18392=
XM_024453095.1:c.55171C= (TTN) XP_024308863.1:p.Arg18391=
XM_024453096.1:c.54604C= (TTN) XP_024308864.1:p.Arg18202=
XM_024453097.1:c.51946C= (TTN) XP_024308865.1:p.Arg17316=
XM_024453098.1:c.51865C= (TTN) XP_024308866.1:p.Arg17289=
XM_024453099.1:c.33628C= (TTN) XP_024308867.1:p.Arg11210=
XM_024453100.1:c.23482C= (TTN) XP_024308868.1:p.Arg7828=