Canonical Allele Identifier: CA349479390

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590922T>A , CM000664.2:g.178590922T>A GRCh38
NC_000002.11:g.179455649T>A , CM000664.1:g.179455649T>A GRCh37
NC_000002.10:g.179163895T>A NCBI36
NG_011618.3:g.244881A>T , LRG_391:g.244881A>T
NG_051363.1:g.73096T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53099A>T (TTN) ENSP00000343764.6:p.Lys17700Ile
ENST00000342175.11:c.34184A>T (TTN) ENSP00000340554.6:p.Lys11395Ile
ENST00000359218.10:c.33983A>T (TTN) ENSP00000352154.5:p.Lys11328Ile
ENST00000342175.10:c.34184A>T (TTN) ENSP00000340554.6:p.Lys11395Ile
ENST00000342992.10:c.53099A>T (TTN) ENSP00000343764.6:p.Lys17700Ile
ENST00000359218.9:c.33983A>T (TTN) ENSP00000352154.5:p.Lys11328Ile
ENST00000460472.6:c.33608A>T (TTN) ENSP00000434586.1:p.Lys11203Ile
ENST00000589042.5:c.60803A>T (TTN) MANE Select ENSP00000467141.1:p.Lys20268Ile
ENST00000591111.5:c.55880A>T (TTN) ENSP00000465570.1:p.Lys18627Ile
ENST00000615779.4:c.55880A>T (TTN) ENSP00000483597.1:p.Lys18627Ile
NM_001256850.1:c.55880A>T (TTN) NP_001243779.1:p.Lys18627Ile
NM_001267550.2:c.60803A>T (TTN) MANE Select NP_001254479.2:p.Lys20268Ile
NM_003319.4:c.33608A>T (TTN) NP_003310.4:p.Lys11203Ile
NM_133378.4:c.53099A>T (TTN) NP_596869.4:p.Lys17700Ile
NM_133432.3:c.33983A>T (TTN) NP_597676.3:p.Lys11328Ile
NM_133437.4:c.34184A>T (TTN) NP_597681.4:p.Lys11395Ile
NR_038271.1:n.597-6674T>A (TTN-AS1)
NR_038272.1:n.3189-217T>A (TTN-AS1)
XM_011511729.1:c.59900A>T (TTN) XP_011510031.1:p.Lys19967Ile
XM_011511730.1:c.33794A>T (TTN) XP_011510032.1:p.Lys11265Ile
XM_011511731.1:c.33653A>T (TTN) XP_011510033.1:p.Lys11218Ile
XM_017004819.1:c.59696A>T (TTN) XP_016860308.1:p.Lys19899Ile
XM_017004820.1:c.55094A>T (TTN) XP_016860309.1:p.Lys18365Ile
XM_017004821.1:c.55091A>T (TTN) XP_016860310.1:p.Lys18364Ile
XM_017004822.1:c.52133A>T (TTN) XP_016860311.1:p.Lys17378Ile
XM_017004823.1:c.33749A>T (TTN) XP_016860312.1:p.Lys11250Ile
XM_024453094.1:c.55244A>T (TTN) XP_024308862.1:p.Lys18415Ile
XM_024453095.1:c.55241A>T (TTN) XP_024308863.1:p.Lys18414Ile
XM_024453096.1:c.54674A>T (TTN) XP_024308864.1:p.Lys18225Ile
XM_024453097.1:c.52016A>T (TTN) XP_024308865.1:p.Lys17339Ile
XM_024453098.1:c.51935A>T (TTN) XP_024308866.1:p.Lys17312Ile
XM_024453099.1:c.33698A>T (TTN) XP_024308867.1:p.Lys11233Ile
XM_024453100.1:c.23552A>T (TTN) XP_024308868.1:p.Lys7851Ile