Canonical Allele Identifier: CA349480218

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591031T>A , CM000664.2:g.178591031T>A GRCh38
NC_000002.11:g.179455758T>A , CM000664.1:g.179455758T>A GRCh37
NC_000002.10:g.179164004T>A NCBI36
NG_011618.3:g.244772A>T , LRG_391:g.244772A>T
NG_051363.1:g.73205T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52990A>T (TTN) ENSP00000343764.6:p.Lys17664Ter
ENST00000342175.11:c.34075A>T (TTN) ENSP00000340554.6:p.Lys11359Ter
ENST00000359218.10:c.33874A>T (TTN) ENSP00000352154.5:p.Lys11292Ter
ENST00000342175.10:c.34075A>T (TTN) ENSP00000340554.6:p.Lys11359Ter
ENST00000342992.10:c.52990A>T (TTN) ENSP00000343764.6:p.Lys17664Ter
ENST00000359218.9:c.33874A>T (TTN) ENSP00000352154.5:p.Lys11292Ter
ENST00000460472.6:c.33499A>T (TTN) ENSP00000434586.1:p.Lys11167Ter
ENST00000589042.5:c.60694A>T (TTN) MANE Select ENSP00000467141.1:p.Lys20232Ter
ENST00000591111.5:c.55771A>T (TTN) ENSP00000465570.1:p.Lys18591Ter
ENST00000615779.4:c.55771A>T (TTN) ENSP00000483597.1:p.Lys18591Ter
NM_001256850.1:c.55771A>T (TTN) NP_001243779.1:p.Lys18591Ter
NM_001267550.2:c.60694A>T (TTN) MANE Select NP_001254479.2:p.Lys20232Ter
NM_003319.4:c.33499A>T (TTN) NP_003310.4:p.Lys11167Ter
NM_133378.4:c.52990A>T (TTN) NP_596869.4:p.Lys17664Ter
NM_133432.3:c.33874A>T (TTN) NP_597676.3:p.Lys11292Ter
NM_133437.4:c.34075A>T (TTN) NP_597681.4:p.Lys11359Ter
NR_038271.1:n.597-6565T>A (TTN-AS1)
NR_038272.1:n.3189-108T>A (TTN-AS1)
XM_011511729.1:c.59791A>T (TTN) XP_011510031.1:p.Lys19931Ter
XM_011511730.1:c.33685A>T (TTN) XP_011510032.1:p.Lys11229Ter
XM_011511731.1:c.33544A>T (TTN) XP_011510033.1:p.Lys11182Ter
XM_017004819.1:c.59587A>T (TTN) XP_016860308.1:p.Lys19863Ter
XM_017004820.1:c.54985A>T (TTN) XP_016860309.1:p.Lys18329Ter
XM_017004821.1:c.54982A>T (TTN) XP_016860310.1:p.Lys18328Ter
XM_017004822.1:c.52024A>T (TTN) XP_016860311.1:p.Lys17342Ter
XM_017004823.1:c.33640A>T (TTN) XP_016860312.1:p.Lys11214Ter
XM_024453094.1:c.55135A>T (TTN) XP_024308862.1:p.Lys18379Ter
XM_024453095.1:c.55132A>T (TTN) XP_024308863.1:p.Lys18378Ter
XM_024453096.1:c.54565A>T (TTN) XP_024308864.1:p.Lys18189Ter
XM_024453097.1:c.51907A>T (TTN) XP_024308865.1:p.Lys17303Ter
XM_024453098.1:c.51826A>T (TTN) XP_024308866.1:p.Lys17276Ter
XM_024453099.1:c.33589A>T (TTN) XP_024308867.1:p.Lys11197Ter
XM_024453100.1:c.23443A>T (TTN) XP_024308868.1:p.Lys7815Ter