Canonical Allele Identifier: CA60974346
Community Standard Title: NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178724141G>A , CM000664.2:g.178724141G>A GRCh38
NC_000002.11:g.179588868G>A , CM000664.1:g.179588868G>A GRCh37
NC_000002.10:g.179297113G>A NCBI36
NG_011618.3:g.111662C>T , LRG_391:g.111662C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.21118C>T MANE Select NP_001254479.2:p.Arg7040Ter
ENST00000589042.5:c.21118C>T MANE Select ENSP00000467141.1:p.Arg7040Ter
NM_001256850.1:c.20167C>T NP_001243779.1:p.Arg6723Ter
NM_003319.4:c.13282+13941C>T NP_003310.4:n.13282+13941C>T
NM_133378.4:c.17386C>T NP_596869.4:p.Arg5796Ter
NM_133432.3:c.13657+13941C>T NP_597676.3:n.13657+13941C>T
NM_133437.4:c.13858+13941C>T NP_597681.4:n.13858+13941C>T
ENST00000342175.10:c.13858+13941C>T ENSP00000340554.6:n.13858+13941C>T
ENST00000342175.11:c.13858+13941C>T ENSP00000340554.6:n.13858+13941C>T
ENST00000342992.10:c.17386C>T ENSP00000343764.6:p.Arg5796Ter
ENST00000342992.11:c.17386C>T ENSP00000343764.6:p.Arg5796Ter
ENST00000359218.10:c.13657+13941C>T ENSP00000352154.5:n.13657+13941C>T
ENST00000359218.9:c.13657+13941C>T ENSP00000352154.5:n.13657+13941C>T
ENST00000460472.6:c.13282+13941C>T ENSP00000434586.1:n.13282+13941C>T
ENST00000591111.5:c.20167C>T ENSP00000465570.1:p.Arg6723Ter
ENST00000615779.4:c.20167C>T ENSP00000483597.1:p.Arg6723Ter
XM_011511729.1:c.20215C>T XP_011510031.1:p.Arg6739Ter
XM_011511730.1:c.13468+13941C>T XP_011510032.1:n.13468+13941C>T
XM_011511731.1:c.13327+13941C>T XP_011510033.1:n.13327+13941C>T
XM_017004819.1:c.20170C>T XP_016860308.1:p.Arg6724Ter
XM_017004820.1:c.17389C>T XP_016860309.1:p.Arg5797Ter
XM_017004821.1:c.17386C>T XP_016860310.1:p.Arg5796Ter
XM_017004822.1:c.20170C>T XP_016860311.1:p.Arg6724Ter
XM_017004823.1:c.13423+13941C>T XP_016860312.1:n.13423+13941C>T
XM_024453094.1:c.20170C>T XP_024308862.1:p.Arg6724Ter
XM_024453095.1:c.20170C>T XP_024308863.1:p.Arg6724Ter
XM_024453096.1:c.20170C>T XP_024308864.1:p.Arg6724Ter
XM_024453097.1:c.20170C>T XP_024308865.1:p.Arg6724Ter
XM_024453098.1:c.20170C>T XP_024308866.1:p.Arg6724Ter
XM_024453099.1:c.13423+13941C>T XP_024308867.1:n.13423+13941C>T