Canonical Allele Identifier: CA349479977

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591006C>G , CM000664.2:g.178591006C>G GRCh38
NC_000002.11:g.179455733C>G , CM000664.1:g.179455733C>G GRCh37
NC_000002.10:g.179163979C>G NCBI36
NG_011618.3:g.244797G>C , LRG_391:g.244797G>C
NG_051363.1:g.73180C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53015G>C (TTN) ENSP00000343764.6:p.Cys17672Ser
ENST00000342175.11:c.34100G>C (TTN) ENSP00000340554.6:p.Cys11367Ser
ENST00000359218.10:c.33899G>C (TTN) ENSP00000352154.5:p.Cys11300Ser
ENST00000342175.10:c.34100G>C (TTN) ENSP00000340554.6:p.Cys11367Ser
ENST00000342992.10:c.53015G>C (TTN) ENSP00000343764.6:p.Cys17672Ser
ENST00000359218.9:c.33899G>C (TTN) ENSP00000352154.5:p.Cys11300Ser
ENST00000460472.6:c.33524G>C (TTN) ENSP00000434586.1:p.Cys11175Ser
ENST00000589042.5:c.60719G>C (TTN) MANE Select ENSP00000467141.1:p.Cys20240Ser
ENST00000591111.5:c.55796G>C (TTN) ENSP00000465570.1:p.Cys18599Ser
ENST00000615779.4:c.55796G>C (TTN) ENSP00000483597.1:p.Cys18599Ser
NM_001256850.1:c.55796G>C (TTN) NP_001243779.1:p.Cys18599Ser
NM_001267550.2:c.60719G>C (TTN) MANE Select NP_001254479.2:p.Cys20240Ser
NM_003319.4:c.33524G>C (TTN) NP_003310.4:p.Cys11175Ser
NM_133378.4:c.53015G>C (TTN) NP_596869.4:p.Cys17672Ser
NM_133432.3:c.33899G>C (TTN) NP_597676.3:p.Cys11300Ser
NM_133437.4:c.34100G>C (TTN) NP_597681.4:p.Cys11367Ser
NR_038271.1:n.597-6590C>G (TTN-AS1)
NR_038272.1:n.3189-133C>G (TTN-AS1)
XM_011511729.1:c.59816G>C (TTN) XP_011510031.1:p.Cys19939Ser
XM_011511730.1:c.33710G>C (TTN) XP_011510032.1:p.Cys11237Ser
XM_011511731.1:c.33569G>C (TTN) XP_011510033.1:p.Cys11190Ser
XM_017004819.1:c.59612G>C (TTN) XP_016860308.1:p.Cys19871Ser
XM_017004820.1:c.55010G>C (TTN) XP_016860309.1:p.Cys18337Ser
XM_017004821.1:c.55007G>C (TTN) XP_016860310.1:p.Cys18336Ser
XM_017004822.1:c.52049G>C (TTN) XP_016860311.1:p.Cys17350Ser
XM_017004823.1:c.33665G>C (TTN) XP_016860312.1:p.Cys11222Ser
XM_024453094.1:c.55160G>C (TTN) XP_024308862.1:p.Cys18387Ser
XM_024453095.1:c.55157G>C (TTN) XP_024308863.1:p.Cys18386Ser
XM_024453096.1:c.54590G>C (TTN) XP_024308864.1:p.Cys18197Ser
XM_024453097.1:c.51932G>C (TTN) XP_024308865.1:p.Cys17311Ser
XM_024453098.1:c.51851G>C (TTN) XP_024308866.1:p.Cys17284Ser
XM_024453099.1:c.33614G>C (TTN) XP_024308867.1:p.Cys11205Ser
XM_024453100.1:c.23468G>C (TTN) XP_024308868.1:p.Cys7823Ser