Canonical Allele Identifier: CA349655506
Community Standard Title: NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178634576G>A , CM000664.2:g.178634576G>A GRCh38
NC_000002.11:g.179499303G>A , CM000664.1:g.179499303G>A GRCh37
NC_000002.10:g.179207548G>A NCBI36
NG_011618.3:g.201227C>T , LRG_391:g.201227C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42205C>T MANE Select NP_001254479.2:p.Arg14069Ter
ENST00000589042.5:c.42205C>T MANE Select ENSP00000467141.1:p.Arg14069Ter
NM_001256850.1:c.37282C>T NP_001243779.1:p.Arg12428Ter
NM_003319.4:c.15010C>T NP_003310.4:p.Arg5004Ter
NM_133378.4:c.34501C>T NP_596869.4:p.Arg11501Ter
NM_133432.3:c.15385C>T NP_597676.3:p.Arg5129Ter
NM_133437.4:c.15586C>T NP_597681.4:p.Arg5196Ter
ENST00000342175.10:c.15586C>T ENSP00000340554.6:p.Arg5196Ter
ENST00000342175.11:c.15586C>T ENSP00000340554.6:p.Arg5196Ter
ENST00000342992.10:c.34501C>T ENSP00000343764.6:p.Arg11501Ter
ENST00000342992.11:c.34501C>T ENSP00000343764.6:p.Arg11501Ter
ENST00000359218.10:c.15385C>T ENSP00000352154.5:p.Arg5129Ter
ENST00000359218.9:c.15385C>T ENSP00000352154.5:p.Arg5129Ter
ENST00000460472.6:c.15010C>T ENSP00000434586.1:p.Arg5004Ter
ENST00000591111.5:c.37282C>T ENSP00000465570.1:p.Arg12428Ter
ENST00000615779.4:c.37282C>T ENSP00000483597.1:p.Arg12428Ter
XM_011511729.1:c.41302C>T XP_011510031.1:p.Arg13768Ter
XM_011511730.1:c.15196C>T XP_011510032.1:p.Arg5066Ter
XM_011511731.1:c.15055C>T XP_011510033.1:p.Arg5019Ter
XM_017004819.1:c.41098C>T XP_016860308.1:p.Arg13700Ter
XM_017004820.1:c.36496C>T XP_016860309.1:p.Arg12166Ter
XM_017004821.1:c.36493C>T XP_016860310.1:p.Arg12165Ter
XM_017004822.1:c.33535C>T XP_016860311.1:p.Arg11179Ter
XM_017004823.1:c.15151C>T XP_016860312.1:p.Arg5051Ter
XM_024453094.1:c.36646C>T XP_024308862.1:p.Arg12216Ter
XM_024453095.1:c.36643C>T XP_024308863.1:p.Arg12215Ter
XM_024453096.1:c.36076C>T XP_024308864.1:p.Arg12026Ter
XM_024453097.1:c.33418C>T XP_024308865.1:p.Arg11140Ter
XM_024453098.1:c.33337C>T XP_024308866.1:p.Arg11113Ter
XM_024453099.1:c.15100C>T XP_024308867.1:p.Arg5034Ter
XM_024453100.1:c.4954C>T XP_024308868.1:p.Arg1652Ter