Canonical Allele Identifier: CA349638734
Community Standard Title: NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178622705G>A , CM000664.2:g.178622705G>A GRCh38
NC_000002.11:g.179487432G>A , CM000664.1:g.179487432G>A GRCh37
NC_000002.10:g.179195677G>A NCBI36
NG_011618.3:g.213098C>T , LRG_391:g.213098C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.44878C>T MANE Select NP_001254479.2:p.Arg14960Ter
ENST00000589042.5:c.44878C>T MANE Select ENSP00000467141.1:p.Arg14960Ter
NM_001256850.1:c.39955C>T NP_001243779.1:p.Arg13319Ter
NM_003319.4:c.17683C>T NP_003310.4:p.Arg5895Ter
NM_133378.4:c.37174C>T NP_596869.4:p.Arg12392Ter
NM_133432.3:c.18058C>T NP_597676.3:p.Arg6020Ter
NM_133437.4:c.18259C>T NP_597681.4:p.Arg6087Ter
ENST00000342175.10:c.18259C>T ENSP00000340554.6:p.Arg6087Ter
ENST00000342175.11:c.18259C>T ENSP00000340554.6:p.Arg6087Ter
ENST00000342992.10:c.37174C>T ENSP00000343764.6:p.Arg12392Ter
ENST00000342992.11:c.37174C>T ENSP00000343764.6:p.Arg12392Ter
ENST00000359218.10:c.18058C>T ENSP00000352154.5:p.Arg6020Ter
ENST00000359218.9:c.18058C>T ENSP00000352154.5:p.Arg6020Ter
ENST00000460472.6:c.17683C>T ENSP00000434586.1:p.Arg5895Ter
ENST00000591111.5:c.39955C>T ENSP00000465570.1:p.Arg13319Ter
ENST00000615779.4:c.39955C>T ENSP00000483597.1:p.Arg13319Ter
XM_011511729.1:c.43975C>T XP_011510031.1:p.Arg14659Ter
XM_011511730.1:c.17869C>T XP_011510032.1:p.Arg5957Ter
XM_011511731.1:c.17728C>T XP_011510033.1:p.Arg5910Ter
XM_017004819.1:c.43771C>T XP_016860308.1:p.Arg14591Ter
XM_017004820.1:c.39169C>T XP_016860309.1:p.Arg13057Ter
XM_017004821.1:c.39166C>T XP_016860310.1:p.Arg13056Ter
XM_017004822.1:c.36208C>T XP_016860311.1:p.Arg12070Ter
XM_017004823.1:c.17824C>T XP_016860312.1:p.Arg5942Ter
XM_024453094.1:c.39319C>T XP_024308862.1:p.Arg13107Ter
XM_024453095.1:c.39316C>T XP_024308863.1:p.Arg13106Ter
XM_024453096.1:c.38749C>T XP_024308864.1:p.Arg12917Ter
XM_024453097.1:c.36091C>T XP_024308865.1:p.Arg12031Ter
XM_024453098.1:c.36010C>T XP_024308866.1:p.Arg12004Ter
XM_024453099.1:c.17773C>T XP_024308867.1:p.Arg5925Ter
XM_024453100.1:c.7627C>T XP_024308868.1:p.Arg2543Ter