Canonical Allele Identifier: CA1310546774
Community Standard Title: NM_001267550.2(TTN):c.52857C= (p.Cys17619=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607930G= , CM000664.2:g.178607930G= GRCh38
NC_000002.11:g.179472657G= , CM000664.1:g.179472657G= GRCh37
NC_000002.10:g.179180902G= NCBI36
NG_011618.3:g.227873C= , LRG_391:g.227873C=
NG_051363.1:g.90104G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52857C= (TTN) MANE Select NP_001254479.2:p.Cys17619=
ENST00000589042.5:c.52857C= (TTN) MANE Select ENSP00000467141.1:p.Cys17619=
NM_001256850.1:c.47934C= (TTN) NP_001243779.1:p.Cys15978=
NM_003319.4:c.25662C= (TTN) NP_003310.4:p.Cys8554=
NM_133378.4:c.45153C= (TTN) NP_596869.4:p.Cys15051=
NM_133432.3:c.26037C= (TTN) NP_597676.3:p.Cys8679=
NM_133437.4:c.26238C= (TTN) NP_597681.4:p.Cys8746=
NR_038271.1:n.683-237G= (TTN-AS1)
ENST00000342175.10:c.26238C= (TTN) ENSP00000340554.6:p.Cys8746=
ENST00000342175.11:c.26238C= (TTN) ENSP00000340554.6:p.Cys8746=
ENST00000342992.10:c.45153C= (TTN) ENSP00000343764.6:p.Cys15051=
ENST00000342992.11:c.45153C= (TTN) ENSP00000343764.6:p.Cys15051=
ENST00000359218.10:c.26037C= (TTN) ENSP00000352154.5:p.Cys8679=
ENST00000359218.9:c.26037C= (TTN) ENSP00000352154.5:p.Cys8679=
ENST00000460472.6:c.25662C= (TTN) ENSP00000434586.1:p.Cys8554=
ENST00000591111.5:c.47934C= (TTN) ENSP00000465570.1:p.Cys15978=
ENST00000615779.4:c.47934C= (TTN) ENSP00000483597.1:p.Cys15978=
XM_011511729.1:c.51954C= (TTN) XP_011510031.1:p.Cys17318=
XM_011511730.1:c.25848C= (TTN) XP_011510032.1:p.Cys8616=
XM_011511731.1:c.25707C= (TTN) XP_011510033.1:p.Cys8569=
XM_017004819.1:c.51750C= (TTN) XP_016860308.1:p.Cys17250=
XM_017004820.1:c.47148C= (TTN) XP_016860309.1:p.Cys15716=
XM_017004821.1:c.47145C= (TTN) XP_016860310.1:p.Cys15715=
XM_017004822.1:c.44187C= (TTN) XP_016860311.1:p.Cys14729=
XM_017004823.1:c.25803C= (TTN) XP_016860312.1:p.Cys8601=
XM_024453094.1:c.47298C= (TTN) XP_024308862.1:p.Cys15766=
XM_024453095.1:c.47295C= (TTN) XP_024308863.1:p.Cys15765=
XM_024453096.1:c.46728C= (TTN) XP_024308864.1:p.Cys15576=
XM_024453097.1:c.44070C= (TTN) XP_024308865.1:p.Cys14690=
XM_024453098.1:c.43989C= (TTN) XP_024308866.1:p.Cys14663=
XM_024453099.1:c.25752C= (TTN) XP_024308867.1:p.Cys8584=
XM_024453100.1:c.15606C= (TTN) XP_024308868.1:p.Cys5202=