Canonical Allele Identifier: CA1996467
Community Standard Title: NM_001267550.2(TTN):c.40519C>T (p.Arg13507Cys)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178642276G>A , CM000664.2:g.178642276G>A GRCh38
NC_000002.11:g.179507003G>A , CM000664.1:g.179507003G>A GRCh37
NC_000002.10:g.179215248G>A NCBI36
NG_011618.3:g.193527C>T , LRG_391:g.193527C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.40519C>T MANE Select NP_001254479.2:p.Arg13507Cys
ENST00000589042.5:c.40519C>T MANE Select ENSP00000467141.1:p.Arg13507Cys
NM_001256850.1:c.35596C>T NP_001243779.1:p.Arg11866Cys
NM_003319.4:c.13324C>T NP_003310.4:p.Arg4442Cys
NM_133378.4:c.32815C>T NP_596869.4:p.Arg10939Cys
NM_133432.3:c.13699C>T NP_597676.3:p.Arg4567Cys
NM_133437.4:c.13900C>T NP_597681.4:p.Arg4634Cys
ENST00000342175.10:c.13900C>T ENSP00000340554.6:p.Arg4634Cys
ENST00000342175.11:c.13900C>T ENSP00000340554.6:p.Arg4634Cys
ENST00000342992.10:c.32815C>T ENSP00000343764.6:p.Arg10939Cys
ENST00000342992.11:c.32815C>T ENSP00000343764.6:p.Arg10939Cys
ENST00000359218.10:c.13699C>T ENSP00000352154.5:p.Arg4567Cys
ENST00000359218.9:c.13699C>T ENSP00000352154.5:p.Arg4567Cys
ENST00000414766.5:c.2482C>T ENSP00000401501.1:p.Arg828Cys
ENST00000426232.5:c.597-1646C>T
ENST00000446966.1:c.995-1646C>T ENSP00000408004.1:n.995-1646C>T
ENST00000460472.6:c.13324C>T ENSP00000434586.1:p.Arg4442Cys
ENST00000591111.5:c.35596C>T ENSP00000465570.1:p.Arg11866Cys
ENST00000615779.4:c.35596C>T ENSP00000483597.1:p.Arg11866Cys
XM_011511729.1:c.39616C>T XP_011510031.1:p.Arg13206Cys
XM_011511730.1:c.13510C>T XP_011510032.1:p.Arg4504Cys
XM_011511731.1:c.13369C>T XP_011510033.1:p.Arg4457Cys
XM_017004819.1:c.39412C>T XP_016860308.1:p.Arg13138Cys
XM_017004820.1:c.34810C>T XP_016860309.1:p.Arg11604Cys
XM_017004821.1:c.34807C>T XP_016860310.1:p.Arg11603Cys
XM_017004822.1:c.31900C>T XP_016860311.1:p.Arg10634Cys
XM_017004823.1:c.13465C>T XP_016860312.1:p.Arg4489Cys
XM_024453094.1:c.34960C>T XP_024308862.1:p.Arg11654Cys
XM_024453095.1:c.34957C>T XP_024308863.1:p.Arg11653Cys
XM_024453096.1:c.34390C>T XP_024308864.1:p.Arg11464Cys
XM_024453097.1:c.31732C>T XP_024308865.1:p.Arg10578Cys
XM_024453098.1:c.31651C>T XP_024308866.1:p.Arg10551Cys
XM_024453099.1:c.13465C>T XP_024308867.1:p.Arg4489Cys
XM_024453100.1:c.3268C>T XP_024308868.1:p.Arg1090Cys