Canonical Allele Identifier: CA349483550

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591110T>C , CM000664.2:g.178591110T>C GRCh38
NC_000002.11:g.179455837T>C , CM000664.1:g.179455837T>C GRCh37
NC_000002.10:g.179164083T>C NCBI36
NG_011618.3:g.244693A>G , LRG_391:g.244693A>G
NG_051363.1:g.73284T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52911A>G (TTN) ENSP00000343764.6:p.Ile17637Met
ENST00000342175.11:c.33996A>G (TTN) ENSP00000340554.6:p.Ile11332Met
ENST00000359218.10:c.33795A>G (TTN) ENSP00000352154.5:p.Ile11265Met
ENST00000342175.10:c.33996A>G (TTN) ENSP00000340554.6:p.Ile11332Met
ENST00000342992.10:c.52911A>G (TTN) ENSP00000343764.6:p.Ile17637Met
ENST00000359218.9:c.33795A>G (TTN) ENSP00000352154.5:p.Ile11265Met
ENST00000460472.6:c.33420A>G (TTN) ENSP00000434586.1:p.Ile11140Met
ENST00000589042.5:c.60615A>G (TTN) MANE Select ENSP00000467141.1:p.Ile20205Met
ENST00000591111.5:c.55692A>G (TTN) ENSP00000465570.1:p.Ile18564Met
ENST00000615779.4:c.55692A>G (TTN) ENSP00000483597.1:p.Ile18564Met
NM_001256850.1:c.55692A>G (TTN) NP_001243779.1:p.Ile18564Met
NM_001267550.2:c.60615A>G (TTN) MANE Select NP_001254479.2:p.Ile20205Met
NM_003319.4:c.33420A>G (TTN) NP_003310.4:p.Ile11140Met
NM_133378.4:c.52911A>G (TTN) NP_596869.4:p.Ile17637Met
NM_133432.3:c.33795A>G (TTN) NP_597676.3:p.Ile11265Met
NM_133437.4:c.33996A>G (TTN) NP_597681.4:p.Ile11332Met
NR_038271.1:n.597-6486T>C (TTN-AS1)
NR_038272.1:n.3189-29T>C (TTN-AS1)
XM_011511729.1:c.59712A>G (TTN) XP_011510031.1:p.Ile19904Met
XM_011511730.1:c.33606A>G (TTN) XP_011510032.1:p.Ile11202Met
XM_011511731.1:c.33465A>G (TTN) XP_011510033.1:p.Ile11155Met
XM_017004819.1:c.59508A>G (TTN) XP_016860308.1:p.Ile19836Met
XM_017004820.1:c.54906A>G (TTN) XP_016860309.1:p.Ile18302Met
XM_017004821.1:c.54903A>G (TTN) XP_016860310.1:p.Ile18301Met
XM_017004822.1:c.51945A>G (TTN) XP_016860311.1:p.Ile17315Met
XM_017004823.1:c.33561A>G (TTN) XP_016860312.1:p.Ile11187Met
XM_024453094.1:c.55056A>G (TTN) XP_024308862.1:p.Ile18352Met
XM_024453095.1:c.55053A>G (TTN) XP_024308863.1:p.Ile18351Met
XM_024453096.1:c.54486A>G (TTN) XP_024308864.1:p.Ile18162Met
XM_024453097.1:c.51828A>G (TTN) XP_024308865.1:p.Ile17276Met
XM_024453098.1:c.51747A>G (TTN) XP_024308866.1:p.Ile17249Met
XM_024453099.1:c.33510A>G (TTN) XP_024308867.1:p.Ile11170Met
XM_024453100.1:c.23364A>G (TTN) XP_024308868.1:p.Ile7788Met