Canonical Allele Identifier: CA349632261
Community Standard Title: NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178620886T>A , CM000664.2:g.178620886T>A GRCh38
NC_000002.11:g.179485613T>A , CM000664.1:g.179485613T>A GRCh37
NC_000002.10:g.179193858T>A NCBI36
NG_011618.3:g.214917A>T , LRG_391:g.214917A>T
NG_051363.1:g.103060T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45724A>T MANE Select NP_001254479.2:p.Arg15242Ter
ENST00000589042.5:c.45724A>T MANE Select ENSP00000467141.1:p.Arg15242Ter
NM_001256850.1:c.40801A>T NP_001243779.1:p.Arg13601Ter
NM_003319.4:c.18529A>T NP_003310.4:p.Arg6177Ter
NM_133378.4:c.38020A>T NP_596869.4:p.Arg12674Ter
NM_133432.3:c.18904A>T NP_597676.3:p.Arg6302Ter
NM_133437.4:c.19105A>T NP_597681.4:p.Arg6369Ter
ENST00000342175.10:c.19105A>T ENSP00000340554.6:p.Arg6369Ter
ENST00000342175.11:c.19105A>T ENSP00000340554.6:p.Arg6369Ter
ENST00000342992.10:c.38020A>T ENSP00000343764.6:p.Arg12674Ter
ENST00000342992.11:c.38020A>T ENSP00000343764.6:p.Arg12674Ter
ENST00000359218.10:c.18904A>T ENSP00000352154.5:p.Arg6302Ter
ENST00000359218.9:c.18904A>T ENSP00000352154.5:p.Arg6302Ter
ENST00000460472.6:c.18529A>T ENSP00000434586.1:p.Arg6177Ter
ENST00000591111.5:c.40801A>T ENSP00000465570.1:p.Arg13601Ter
ENST00000615779.4:c.40801A>T ENSP00000483597.1:p.Arg13601Ter
XM_011511729.1:c.44821A>T XP_011510031.1:p.Arg14941Ter
XM_011511730.1:c.18715A>T XP_011510032.1:p.Arg6239Ter
XM_011511731.1:c.18574A>T XP_011510033.1:p.Arg6192Ter
XM_017004819.1:c.44617A>T XP_016860308.1:p.Arg14873Ter
XM_017004820.1:c.40015A>T XP_016860309.1:p.Arg13339Ter
XM_017004821.1:c.40012A>T XP_016860310.1:p.Arg13338Ter
XM_017004822.1:c.37054A>T XP_016860311.1:p.Arg12352Ter
XM_017004823.1:c.18670A>T XP_016860312.1:p.Arg6224Ter
XM_024453094.1:c.40165A>T XP_024308862.1:p.Arg13389Ter
XM_024453095.1:c.40162A>T XP_024308863.1:p.Arg13388Ter
XM_024453096.1:c.39595A>T XP_024308864.1:p.Arg13199Ter
XM_024453097.1:c.36937A>T XP_024308865.1:p.Arg12313Ter
XM_024453098.1:c.36856A>T XP_024308866.1:p.Arg12286Ter
XM_024453099.1:c.18619A>T XP_024308867.1:p.Arg6207Ter
XM_024453100.1:c.8473A>T XP_024308868.1:p.Arg2825Ter