Canonical Allele Identifier: CA349483576

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591112T>G , CM000664.2:g.178591112T>G GRCh38
NC_000002.11:g.179455839T>G , CM000664.1:g.179455839T>G GRCh37
NC_000002.10:g.179164085T>G NCBI36
NG_011618.3:g.244691A>C , LRG_391:g.244691A>C
NG_051363.1:g.73286T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52909A>C (TTN) ENSP00000343764.6:p.Ile17637Leu
ENST00000342175.11:c.33994A>C (TTN) ENSP00000340554.6:p.Ile11332Leu
ENST00000359218.10:c.33793A>C (TTN) ENSP00000352154.5:p.Ile11265Leu
ENST00000342175.10:c.33994A>C (TTN) ENSP00000340554.6:p.Ile11332Leu
ENST00000342992.10:c.52909A>C (TTN) ENSP00000343764.6:p.Ile17637Leu
ENST00000359218.9:c.33793A>C (TTN) ENSP00000352154.5:p.Ile11265Leu
ENST00000460472.6:c.33418A>C (TTN) ENSP00000434586.1:p.Ile11140Leu
ENST00000589042.5:c.60613A>C (TTN) MANE Select ENSP00000467141.1:p.Ile20205Leu
ENST00000591111.5:c.55690A>C (TTN) ENSP00000465570.1:p.Ile18564Leu
ENST00000615779.4:c.55690A>C (TTN) ENSP00000483597.1:p.Ile18564Leu
NM_001256850.1:c.55690A>C (TTN) NP_001243779.1:p.Ile18564Leu
NM_001267550.2:c.60613A>C (TTN) MANE Select NP_001254479.2:p.Ile20205Leu
NM_003319.4:c.33418A>C (TTN) NP_003310.4:p.Ile11140Leu
NM_133378.4:c.52909A>C (TTN) NP_596869.4:p.Ile17637Leu
NM_133432.3:c.33793A>C (TTN) NP_597676.3:p.Ile11265Leu
NM_133437.4:c.33994A>C (TTN) NP_597681.4:p.Ile11332Leu
NR_038271.1:n.597-6484T>G (TTN-AS1)
NR_038272.1:n.3189-27T>G (TTN-AS1)
XM_011511729.1:c.59710A>C (TTN) XP_011510031.1:p.Ile19904Leu
XM_011511730.1:c.33604A>C (TTN) XP_011510032.1:p.Ile11202Leu
XM_011511731.1:c.33463A>C (TTN) XP_011510033.1:p.Ile11155Leu
XM_017004819.1:c.59506A>C (TTN) XP_016860308.1:p.Ile19836Leu
XM_017004820.1:c.54904A>C (TTN) XP_016860309.1:p.Ile18302Leu
XM_017004821.1:c.54901A>C (TTN) XP_016860310.1:p.Ile18301Leu
XM_017004822.1:c.51943A>C (TTN) XP_016860311.1:p.Ile17315Leu
XM_017004823.1:c.33559A>C (TTN) XP_016860312.1:p.Ile11187Leu
XM_024453094.1:c.55054A>C (TTN) XP_024308862.1:p.Ile18352Leu
XM_024453095.1:c.55051A>C (TTN) XP_024308863.1:p.Ile18351Leu
XM_024453096.1:c.54484A>C (TTN) XP_024308864.1:p.Ile18162Leu
XM_024453097.1:c.51826A>C (TTN) XP_024308865.1:p.Ile17276Leu
XM_024453098.1:c.51745A>C (TTN) XP_024308866.1:p.Ile17249Leu
XM_024453099.1:c.33508A>C (TTN) XP_024308867.1:p.Ile11170Leu
XM_024453100.1:c.23362A>C (TTN) XP_024308868.1:p.Ile7788Leu