Canonical Allele Identifier: CA1994566
Community Standard Title: NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613239G>A , CM000664.2:g.178613239G>A GRCh38
NC_000002.11:g.179477966G>A , CM000664.1:g.179477966G>A GRCh37
NC_000002.10:g.179186211G>A NCBI36
NG_011618.3:g.222564C>T , LRG_391:g.222564C>T
NG_051363.1:g.95413G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.49570C>T (TTN) MANE Select NP_001254479.2:p.Arg16524Cys
ENST00000589042.5:c.49570C>T (TTN) MANE Select ENSP00000467141.1:p.Arg16524Cys
NM_001256850.1:c.44647C>T (TTN) NP_001243779.1:p.Arg14883Cys
NM_003319.4:c.22375C>T (TTN) NP_003310.4:p.Arg7459Cys
NM_133378.4:c.41866C>T (TTN) NP_596869.4:p.Arg13956Cys
NM_133432.3:c.22750C>T (TTN) NP_597676.3:p.Arg7584Cys
NM_133437.4:c.22951C>T (TTN) NP_597681.4:p.Arg7651Cys
NR_038271.1:n.783-796G>A (TTN-AS1)
ENST00000342175.10:c.22951C>T (TTN) ENSP00000340554.6:p.Arg7651Cys
ENST00000342175.11:c.22951C>T (TTN) ENSP00000340554.6:p.Arg7651Cys
ENST00000342992.10:c.41866C>T (TTN) ENSP00000343764.6:p.Arg13956Cys
ENST00000342992.11:c.41866C>T (TTN) ENSP00000343764.6:p.Arg13956Cys
ENST00000359218.10:c.22750C>T (TTN) ENSP00000352154.5:p.Arg7584Cys
ENST00000359218.9:c.22750C>T (TTN) ENSP00000352154.5:p.Arg7584Cys
ENST00000460472.6:c.22375C>T (TTN) ENSP00000434586.1:p.Arg7459Cys
ENST00000591111.5:c.44647C>T (TTN) ENSP00000465570.1:p.Arg14883Cys
ENST00000615779.4:c.44647C>T (TTN) ENSP00000483597.1:p.Arg14883Cys
XM_011511729.1:c.48667C>T (TTN) XP_011510031.1:p.Arg16223Cys
XM_011511730.1:c.22561C>T (TTN) XP_011510032.1:p.Arg7521Cys
XM_011511731.1:c.22420C>T (TTN) XP_011510033.1:p.Arg7474Cys
XM_017004819.1:c.48463C>T (TTN) XP_016860308.1:p.Arg16155Cys
XM_017004820.1:c.43861C>T (TTN) XP_016860309.1:p.Arg14621Cys
XM_017004821.1:c.43858C>T (TTN) XP_016860310.1:p.Arg14620Cys
XM_017004822.1:c.40900C>T (TTN) XP_016860311.1:p.Arg13634Cys
XM_017004823.1:c.22516C>T (TTN) XP_016860312.1:p.Arg7506Cys
XM_024453094.1:c.44011C>T (TTN) XP_024308862.1:p.Arg14671Cys
XM_024453095.1:c.44008C>T (TTN) XP_024308863.1:p.Arg14670Cys
XM_024453096.1:c.43441C>T (TTN) XP_024308864.1:p.Arg14481Cys
XM_024453097.1:c.40783C>T (TTN) XP_024308865.1:p.Arg13595Cys
XM_024453098.1:c.40702C>T (TTN) XP_024308866.1:p.Arg13568Cys
XM_024453099.1:c.22465C>T (TTN) XP_024308867.1:p.Arg7489Cys
XM_024453100.1:c.12319C>T (TTN) XP_024308868.1:p.Arg4107Cys