Canonical Allele Identifier: CA349483555

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591111A>C , CM000664.2:g.178591111A>C GRCh38
NC_000002.11:g.179455838A>C , CM000664.1:g.179455838A>C GRCh37
NC_000002.10:g.179164084A>C NCBI36
NG_011618.3:g.244692T>G , LRG_391:g.244692T>G
NG_051363.1:g.73285A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52910T>G (TTN) ENSP00000343764.6:p.Ile17637Arg
ENST00000342175.11:c.33995T>G (TTN) ENSP00000340554.6:p.Ile11332Arg
ENST00000359218.10:c.33794T>G (TTN) ENSP00000352154.5:p.Ile11265Arg
ENST00000342175.10:c.33995T>G (TTN) ENSP00000340554.6:p.Ile11332Arg
ENST00000342992.10:c.52910T>G (TTN) ENSP00000343764.6:p.Ile17637Arg
ENST00000359218.9:c.33794T>G (TTN) ENSP00000352154.5:p.Ile11265Arg
ENST00000460472.6:c.33419T>G (TTN) ENSP00000434586.1:p.Ile11140Arg
ENST00000589042.5:c.60614T>G (TTN) MANE Select ENSP00000467141.1:p.Ile20205Arg
ENST00000591111.5:c.55691T>G (TTN) ENSP00000465570.1:p.Ile18564Arg
ENST00000615779.4:c.55691T>G (TTN) ENSP00000483597.1:p.Ile18564Arg
NM_001256850.1:c.55691T>G (TTN) NP_001243779.1:p.Ile18564Arg
NM_001267550.2:c.60614T>G (TTN) MANE Select NP_001254479.2:p.Ile20205Arg
NM_003319.4:c.33419T>G (TTN) NP_003310.4:p.Ile11140Arg
NM_133378.4:c.52910T>G (TTN) NP_596869.4:p.Ile17637Arg
NM_133432.3:c.33794T>G (TTN) NP_597676.3:p.Ile11265Arg
NM_133437.4:c.33995T>G (TTN) NP_597681.4:p.Ile11332Arg
NR_038271.1:n.597-6485A>C (TTN-AS1)
NR_038272.1:n.3189-28A>C (TTN-AS1)
XM_011511729.1:c.59711T>G (TTN) XP_011510031.1:p.Ile19904Arg
XM_011511730.1:c.33605T>G (TTN) XP_011510032.1:p.Ile11202Arg
XM_011511731.1:c.33464T>G (TTN) XP_011510033.1:p.Ile11155Arg
XM_017004819.1:c.59507T>G (TTN) XP_016860308.1:p.Ile19836Arg
XM_017004820.1:c.54905T>G (TTN) XP_016860309.1:p.Ile18302Arg
XM_017004821.1:c.54902T>G (TTN) XP_016860310.1:p.Ile18301Arg
XM_017004822.1:c.51944T>G (TTN) XP_016860311.1:p.Ile17315Arg
XM_017004823.1:c.33560T>G (TTN) XP_016860312.1:p.Ile11187Arg
XM_024453094.1:c.55055T>G (TTN) XP_024308862.1:p.Ile18352Arg
XM_024453095.1:c.55052T>G (TTN) XP_024308863.1:p.Ile18351Arg
XM_024453096.1:c.54485T>G (TTN) XP_024308864.1:p.Ile18162Arg
XM_024453097.1:c.51827T>G (TTN) XP_024308865.1:p.Ile17276Arg
XM_024453098.1:c.51746T>G (TTN) XP_024308866.1:p.Ile17249Arg
XM_024453099.1:c.33509T>G (TTN) XP_024308867.1:p.Ile11170Arg
XM_024453100.1:c.23363T>G (TTN) XP_024308868.1:p.Ile7788Arg