Canonical Allele Identifier: CA349479380

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590921T>A , CM000664.2:g.178590921T>A GRCh38
NC_000002.11:g.179455648T>A , CM000664.1:g.179455648T>A GRCh37
NC_000002.10:g.179163894T>A NCBI36
NG_011618.3:g.244882A>T , LRG_391:g.244882A>T
NG_051363.1:g.73095T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53100A>T (TTN) ENSP00000343764.6:p.Lys17700Asn
ENST00000342175.11:c.34185A>T (TTN) ENSP00000340554.6:p.Lys11395Asn
ENST00000359218.10:c.33984A>T (TTN) ENSP00000352154.5:p.Lys11328Asn
ENST00000342175.10:c.34185A>T (TTN) ENSP00000340554.6:p.Lys11395Asn
ENST00000342992.10:c.53100A>T (TTN) ENSP00000343764.6:p.Lys17700Asn
ENST00000359218.9:c.33984A>T (TTN) ENSP00000352154.5:p.Lys11328Asn
ENST00000460472.6:c.33609A>T (TTN) ENSP00000434586.1:p.Lys11203Asn
ENST00000589042.5:c.60804A>T (TTN) MANE Select ENSP00000467141.1:p.Lys20268Asn
ENST00000591111.5:c.55881A>T (TTN) ENSP00000465570.1:p.Lys18627Asn
ENST00000615779.4:c.55881A>T (TTN) ENSP00000483597.1:p.Lys18627Asn
NM_001256850.1:c.55881A>T (TTN) NP_001243779.1:p.Lys18627Asn
NM_001267550.2:c.60804A>T (TTN) MANE Select NP_001254479.2:p.Lys20268Asn
NM_003319.4:c.33609A>T (TTN) NP_003310.4:p.Lys11203Asn
NM_133378.4:c.53100A>T (TTN) NP_596869.4:p.Lys17700Asn
NM_133432.3:c.33984A>T (TTN) NP_597676.3:p.Lys11328Asn
NM_133437.4:c.34185A>T (TTN) NP_597681.4:p.Lys11395Asn
NR_038271.1:n.597-6675T>A (TTN-AS1)
NR_038272.1:n.3189-218T>A (TTN-AS1)
XM_011511729.1:c.59901A>T (TTN) XP_011510031.1:p.Lys19967Asn
XM_011511730.1:c.33795A>T (TTN) XP_011510032.1:p.Lys11265Asn
XM_011511731.1:c.33654A>T (TTN) XP_011510033.1:p.Lys11218Asn
XM_017004819.1:c.59697A>T (TTN) XP_016860308.1:p.Lys19899Asn
XM_017004820.1:c.55095A>T (TTN) XP_016860309.1:p.Lys18365Asn
XM_017004821.1:c.55092A>T (TTN) XP_016860310.1:p.Lys18364Asn
XM_017004822.1:c.52134A>T (TTN) XP_016860311.1:p.Lys17378Asn
XM_017004823.1:c.33750A>T (TTN) XP_016860312.1:p.Lys11250Asn
XM_024453094.1:c.55245A>T (TTN) XP_024308862.1:p.Lys18415Asn
XM_024453095.1:c.55242A>T (TTN) XP_024308863.1:p.Lys18414Asn
XM_024453096.1:c.54675A>T (TTN) XP_024308864.1:p.Lys18225Asn
XM_024453097.1:c.52017A>T (TTN) XP_024308865.1:p.Lys17339Asn
XM_024453098.1:c.51936A>T (TTN) XP_024308866.1:p.Lys17312Asn
XM_024453099.1:c.33699A>T (TTN) XP_024308867.1:p.Lys11233Asn
XM_024453100.1:c.23553A>T (TTN) XP_024308868.1:p.Lys7851Asn