Canonical Allele Identifier: CA349479980

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53014T>G (TTN) ENSP00000343764.6:p.Cys17672Gly
ENST00000342175.11:c.34099T>G (TTN) ENSP00000340554.6:p.Cys11367Gly
ENST00000359218.10:c.33898T>G (TTN) ENSP00000352154.5:p.Cys11300Gly
ENST00000342175.10:c.34099T>G (TTN) ENSP00000340554.6:p.Cys11367Gly
ENST00000342992.10:c.53014T>G (TTN) ENSP00000343764.6:p.Cys17672Gly
ENST00000359218.9:c.33898T>G (TTN) ENSP00000352154.5:p.Cys11300Gly
ENST00000460472.6:c.33523T>G (TTN) ENSP00000434586.1:p.Cys11175Gly
ENST00000589042.5:c.60718T>G (TTN) MANE Select ENSP00000467141.1:p.Cys20240Gly
ENST00000591111.5:c.55795T>G (TTN) ENSP00000465570.1:p.Cys18599Gly
ENST00000615779.4:c.55795T>G (TTN) ENSP00000483597.1:p.Cys18599Gly
NM_001256850.1:c.55795T>G (TTN) NP_001243779.1:p.Cys18599Gly
NM_001267550.2:c.60718T>G (TTN) MANE Select NP_001254479.2:p.Cys20240Gly
NM_003319.4:c.33523T>G (TTN) NP_003310.4:p.Cys11175Gly
NM_133378.4:c.53014T>G (TTN) NP_596869.4:p.Cys17672Gly
NM_133432.3:c.33898T>G (TTN) NP_597676.3:p.Cys11300Gly
NM_133437.4:c.34099T>G (TTN) NP_597681.4:p.Cys11367Gly
NR_038271.1:n.597-6589A>C (TTN-AS1)
NR_038272.1:n.3189-132A>C (TTN-AS1)
XM_011511729.1:c.59815T>G (TTN) XP_011510031.1:p.Cys19939Gly
XM_011511730.1:c.33709T>G (TTN) XP_011510032.1:p.Cys11237Gly
XM_011511731.1:c.33568T>G (TTN) XP_011510033.1:p.Cys11190Gly
XM_017004819.1:c.59611T>G (TTN) XP_016860308.1:p.Cys19871Gly
XM_017004820.1:c.55009T>G (TTN) XP_016860309.1:p.Cys18337Gly
XM_017004821.1:c.55006T>G (TTN) XP_016860310.1:p.Cys18336Gly
XM_017004822.1:c.52048T>G (TTN) XP_016860311.1:p.Cys17350Gly
XM_017004823.1:c.33664T>G (TTN) XP_016860312.1:p.Cys11222Gly
XM_024453094.1:c.55159T>G (TTN) XP_024308862.1:p.Cys18387Gly
XM_024453095.1:c.55156T>G (TTN) XP_024308863.1:p.Cys18386Gly
XM_024453096.1:c.54589T>G (TTN) XP_024308864.1:p.Cys18197Gly
XM_024453097.1:c.51931T>G (TTN) XP_024308865.1:p.Cys17311Gly
XM_024453098.1:c.51850T>G (TTN) XP_024308866.1:p.Cys17284Gly
XM_024453099.1:c.33613T>G (TTN) XP_024308867.1:p.Cys11205Gly
XM_024453100.1:c.23467T>G (TTN) XP_024308868.1:p.Cys7823Gly