Canonical Allele Identifier: CA349479981

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591007A>G , CM000664.2:g.178591007A>G GRCh38
NC_000002.11:g.179455734A>G , CM000664.1:g.179455734A>G GRCh37
NC_000002.10:g.179163980A>G NCBI36
NG_011618.3:g.244796T>C , LRG_391:g.244796T>C
NG_051363.1:g.73181A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53014T>C (TTN) ENSP00000343764.6:p.Cys17672Arg
ENST00000342175.11:c.34099T>C (TTN) ENSP00000340554.6:p.Cys11367Arg
ENST00000359218.10:c.33898T>C (TTN) ENSP00000352154.5:p.Cys11300Arg
ENST00000342175.10:c.34099T>C (TTN) ENSP00000340554.6:p.Cys11367Arg
ENST00000342992.10:c.53014T>C (TTN) ENSP00000343764.6:p.Cys17672Arg
ENST00000359218.9:c.33898T>C (TTN) ENSP00000352154.5:p.Cys11300Arg
ENST00000460472.6:c.33523T>C (TTN) ENSP00000434586.1:p.Cys11175Arg
ENST00000589042.5:c.60718T>C (TTN) MANE Select ENSP00000467141.1:p.Cys20240Arg
ENST00000591111.5:c.55795T>C (TTN) ENSP00000465570.1:p.Cys18599Arg
ENST00000615779.4:c.55795T>C (TTN) ENSP00000483597.1:p.Cys18599Arg
NM_001256850.1:c.55795T>C (TTN) NP_001243779.1:p.Cys18599Arg
NM_001267550.2:c.60718T>C (TTN) MANE Select NP_001254479.2:p.Cys20240Arg
NM_003319.4:c.33523T>C (TTN) NP_003310.4:p.Cys11175Arg
NM_133378.4:c.53014T>C (TTN) NP_596869.4:p.Cys17672Arg
NM_133432.3:c.33898T>C (TTN) NP_597676.3:p.Cys11300Arg
NM_133437.4:c.34099T>C (TTN) NP_597681.4:p.Cys11367Arg
NR_038271.1:n.597-6589A>G (TTN-AS1)
NR_038272.1:n.3189-132A>G (TTN-AS1)
XM_011511729.1:c.59815T>C (TTN) XP_011510031.1:p.Cys19939Arg
XM_011511730.1:c.33709T>C (TTN) XP_011510032.1:p.Cys11237Arg
XM_011511731.1:c.33568T>C (TTN) XP_011510033.1:p.Cys11190Arg
XM_017004819.1:c.59611T>C (TTN) XP_016860308.1:p.Cys19871Arg
XM_017004820.1:c.55009T>C (TTN) XP_016860309.1:p.Cys18337Arg
XM_017004821.1:c.55006T>C (TTN) XP_016860310.1:p.Cys18336Arg
XM_017004822.1:c.52048T>C (TTN) XP_016860311.1:p.Cys17350Arg
XM_017004823.1:c.33664T>C (TTN) XP_016860312.1:p.Cys11222Arg
XM_024453094.1:c.55159T>C (TTN) XP_024308862.1:p.Cys18387Arg
XM_024453095.1:c.55156T>C (TTN) XP_024308863.1:p.Cys18386Arg
XM_024453096.1:c.54589T>C (TTN) XP_024308864.1:p.Cys18197Arg
XM_024453097.1:c.51931T>C (TTN) XP_024308865.1:p.Cys17311Arg
XM_024453098.1:c.51850T>C (TTN) XP_024308866.1:p.Cys17284Arg
XM_024453099.1:c.33613T>C (TTN) XP_024308867.1:p.Cys11205Arg
XM_024453100.1:c.23467T>C (TTN) XP_024308868.1:p.Cys7823Arg