Canonical Allele Identifier: CA1996118
Community Standard Title: NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178634546G>A , CM000664.2:g.178634546G>A GRCh38
NC_000002.11:g.179499273G>A , CM000664.1:g.179499273G>A GRCh37
NC_000002.10:g.179207518G>A NCBI36
NG_011618.3:g.201257C>T , LRG_391:g.201257C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42235C>T MANE Select NP_001254479.2:p.Arg14079Ter
ENST00000589042.5:c.42235C>T MANE Select ENSP00000467141.1:p.Arg14079Ter
NM_001256850.1:c.37312C>T NP_001243779.1:p.Arg12438Ter
NM_003319.4:c.15040C>T NP_003310.4:p.Arg5014Ter
NM_133378.4:c.34531C>T NP_596869.4:p.Arg11511Ter
NM_133432.3:c.15415C>T NP_597676.3:p.Arg5139Ter
NM_133437.4:c.15616C>T NP_597681.4:p.Arg5206Ter
ENST00000342175.10:c.15616C>T ENSP00000340554.6:p.Arg5206Ter
ENST00000342175.11:c.15616C>T ENSP00000340554.6:p.Arg5206Ter
ENST00000342992.10:c.34531C>T ENSP00000343764.6:p.Arg11511Ter
ENST00000342992.11:c.34531C>T ENSP00000343764.6:p.Arg11511Ter
ENST00000359218.10:c.15415C>T ENSP00000352154.5:p.Arg5139Ter
ENST00000359218.9:c.15415C>T ENSP00000352154.5:p.Arg5139Ter
ENST00000460472.6:c.15040C>T ENSP00000434586.1:p.Arg5014Ter
ENST00000591111.5:c.37312C>T ENSP00000465570.1:p.Arg12438Ter
ENST00000615779.4:c.37312C>T ENSP00000483597.1:p.Arg12438Ter
XM_011511729.1:c.41332C>T XP_011510031.1:p.Arg13778Ter
XM_011511730.1:c.15226C>T XP_011510032.1:p.Arg5076Ter
XM_011511731.1:c.15085C>T XP_011510033.1:p.Arg5029Ter
XM_017004819.1:c.41128C>T XP_016860308.1:p.Arg13710Ter
XM_017004820.1:c.36526C>T XP_016860309.1:p.Arg12176Ter
XM_017004821.1:c.36523C>T XP_016860310.1:p.Arg12175Ter
XM_017004822.1:c.33565C>T XP_016860311.1:p.Arg11189Ter
XM_017004823.1:c.15181C>T XP_016860312.1:p.Arg5061Ter
XM_024453094.1:c.36676C>T XP_024308862.1:p.Arg12226Ter
XM_024453095.1:c.36673C>T XP_024308863.1:p.Arg12225Ter
XM_024453096.1:c.36106C>T XP_024308864.1:p.Arg12036Ter
XM_024453097.1:c.33448C>T XP_024308865.1:p.Arg11150Ter
XM_024453098.1:c.33367C>T XP_024308866.1:p.Arg11123Ter
XM_024453099.1:c.15130C>T XP_024308867.1:p.Arg5044Ter
XM_024453100.1:c.4984C>T XP_024308868.1:p.Arg1662Ter