Canonical Allele Identifier: CA349483561

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52910T>C (TTN) ENSP00000343764.6:p.Ile17637Thr
ENST00000342175.11:c.33995T>C (TTN) ENSP00000340554.6:p.Ile11332Thr
ENST00000359218.10:c.33794T>C (TTN) ENSP00000352154.5:p.Ile11265Thr
ENST00000342175.10:c.33995T>C (TTN) ENSP00000340554.6:p.Ile11332Thr
ENST00000342992.10:c.52910T>C (TTN) ENSP00000343764.6:p.Ile17637Thr
ENST00000359218.9:c.33794T>C (TTN) ENSP00000352154.5:p.Ile11265Thr
ENST00000460472.6:c.33419T>C (TTN) ENSP00000434586.1:p.Ile11140Thr
ENST00000589042.5:c.60614T>C (TTN) MANE Select ENSP00000467141.1:p.Ile20205Thr
ENST00000591111.5:c.55691T>C (TTN) ENSP00000465570.1:p.Ile18564Thr
ENST00000615779.4:c.55691T>C (TTN) ENSP00000483597.1:p.Ile18564Thr
NM_001256850.1:c.55691T>C (TTN) NP_001243779.1:p.Ile18564Thr
NM_001267550.2:c.60614T>C (TTN) MANE Select NP_001254479.2:p.Ile20205Thr
NM_003319.4:c.33419T>C (TTN) NP_003310.4:p.Ile11140Thr
NM_133378.4:c.52910T>C (TTN) NP_596869.4:p.Ile17637Thr
NM_133432.3:c.33794T>C (TTN) NP_597676.3:p.Ile11265Thr
NM_133437.4:c.33995T>C (TTN) NP_597681.4:p.Ile11332Thr
NR_038271.1:n.597-6485A>G (TTN-AS1)
NR_038272.1:n.3189-28A>G (TTN-AS1)
XM_011511729.1:c.59711T>C (TTN) XP_011510031.1:p.Ile19904Thr
XM_011511730.1:c.33605T>C (TTN) XP_011510032.1:p.Ile11202Thr
XM_011511731.1:c.33464T>C (TTN) XP_011510033.1:p.Ile11155Thr
XM_017004819.1:c.59507T>C (TTN) XP_016860308.1:p.Ile19836Thr
XM_017004820.1:c.54905T>C (TTN) XP_016860309.1:p.Ile18302Thr
XM_017004821.1:c.54902T>C (TTN) XP_016860310.1:p.Ile18301Thr
XM_017004822.1:c.51944T>C (TTN) XP_016860311.1:p.Ile17315Thr
XM_017004823.1:c.33560T>C (TTN) XP_016860312.1:p.Ile11187Thr
XM_024453094.1:c.55055T>C (TTN) XP_024308862.1:p.Ile18352Thr
XM_024453095.1:c.55052T>C (TTN) XP_024308863.1:p.Ile18351Thr
XM_024453096.1:c.54485T>C (TTN) XP_024308864.1:p.Ile18162Thr
XM_024453097.1:c.51827T>C (TTN) XP_024308865.1:p.Ile17276Thr
XM_024453098.1:c.51746T>C (TTN) XP_024308866.1:p.Ile17249Thr
XM_024453099.1:c.33509T>C (TTN) XP_024308867.1:p.Ile11170Thr
XM_024453100.1:c.23363T>C (TTN) XP_024308868.1:p.Ile7788Thr