Canonical Allele Identifier: CA349653103
Community Standard Title: NM_001267550.2(TTN):c.42949C>T (p.Arg14317Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178633324G>A , CM000664.2:g.178633324G>A GRCh38
NC_000002.11:g.179498051G>A , CM000664.1:g.179498051G>A GRCh37
NC_000002.10:g.179206296G>A NCBI36
NG_011618.3:g.202479C>T , LRG_391:g.202479C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42949C>T MANE Select NP_001254479.2:p.Arg14317Ter
ENST00000589042.5:c.42949C>T MANE Select ENSP00000467141.1:p.Arg14317Ter
NM_001256850.1:c.38026C>T NP_001243779.1:p.Arg12676Ter
NM_003319.4:c.15754C>T NP_003310.4:p.Arg5252Ter
NM_133378.4:c.35245C>T NP_596869.4:p.Arg11749Ter
NM_133432.3:c.16129C>T NP_597676.3:p.Arg5377Ter
NM_133437.4:c.16330C>T NP_597681.4:p.Arg5444Ter
ENST00000342175.10:c.16330C>T ENSP00000340554.6:p.Arg5444Ter
ENST00000342175.11:c.16330C>T ENSP00000340554.6:p.Arg5444Ter
ENST00000342992.10:c.35245C>T ENSP00000343764.6:p.Arg11749Ter
ENST00000342992.11:c.35245C>T ENSP00000343764.6:p.Arg11749Ter
ENST00000359218.10:c.16129C>T ENSP00000352154.5:p.Arg5377Ter
ENST00000359218.9:c.16129C>T ENSP00000352154.5:p.Arg5377Ter
ENST00000460472.6:c.15754C>T ENSP00000434586.1:p.Arg5252Ter
ENST00000591111.5:c.38026C>T ENSP00000465570.1:p.Arg12676Ter
ENST00000615779.4:c.38026C>T ENSP00000483597.1:p.Arg12676Ter
XM_011511729.1:c.42046C>T XP_011510031.1:p.Arg14016Ter
XM_011511730.1:c.15940C>T XP_011510032.1:p.Arg5314Ter
XM_011511731.1:c.15799C>T XP_011510033.1:p.Arg5267Ter
XM_017004819.1:c.41842C>T XP_016860308.1:p.Arg13948Ter
XM_017004820.1:c.37240C>T XP_016860309.1:p.Arg12414Ter
XM_017004821.1:c.37237C>T XP_016860310.1:p.Arg12413Ter
XM_017004822.1:c.34279C>T XP_016860311.1:p.Arg11427Ter
XM_017004823.1:c.15895C>T XP_016860312.1:p.Arg5299Ter
XM_024453094.1:c.37390C>T XP_024308862.1:p.Arg12464Ter
XM_024453095.1:c.37387C>T XP_024308863.1:p.Arg12463Ter
XM_024453096.1:c.36820C>T XP_024308864.1:p.Arg12274Ter
XM_024453097.1:c.34162C>T XP_024308865.1:p.Arg11388Ter
XM_024453098.1:c.34081C>T XP_024308866.1:p.Arg11361Ter
XM_024453099.1:c.15844C>T XP_024308867.1:p.Arg5282Ter
XM_024453100.1:c.5698C>T XP_024308868.1:p.Arg1900Ter