Canonical Allele Identifier: CA349435453

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584478A>C , CM000664.2:g.178584478A>C GRCh38
NC_000002.11:g.179449205A>C , CM000664.1:g.179449205A>C GRCh37
NC_000002.10:g.179157451A>C NCBI36
NG_011618.3:g.251325T>G , LRG_391:g.251325T>G
NG_051363.1:g.66652A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57369T>G (TTN) ENSP00000343764.6:p.Ile19123Met
ENST00000342175.11:c.38454T>G (TTN) ENSP00000340554.6:p.Ile12818Met
ENST00000359218.10:c.38253T>G (TTN) ENSP00000352154.5:p.Ile12751Met
ENST00000342175.10:c.38454T>G (TTN) ENSP00000340554.6:p.Ile12818Met
ENST00000342992.10:c.57369T>G (TTN) ENSP00000343764.6:p.Ile19123Met
ENST00000359218.9:c.38253T>G (TTN) ENSP00000352154.5:p.Ile12751Met
ENST00000460472.6:c.37878T>G (TTN) ENSP00000434586.1:p.Ile12626Met
ENST00000589042.5:c.65073T>G (TTN) MANE Select ENSP00000467141.1:p.Ile21691Met
ENST00000591111.5:c.60150T>G (TTN) ENSP00000465570.1:p.Ile20050Met
ENST00000615779.4:c.60150T>G (TTN) ENSP00000483597.1:p.Ile20050Met
NM_001256850.1:c.60150T>G (TTN) NP_001243779.1:p.Ile20050Met
NM_001267550.2:c.65073T>G (TTN) MANE Select NP_001254479.2:p.Ile21691Met
NM_003319.4:c.37878T>G (TTN) NP_003310.4:p.Ile12626Met
NM_133378.4:c.57369T>G (TTN) NP_596869.4:p.Ile19123Met
NM_133432.3:c.38253T>G (TTN) NP_597676.3:p.Ile12751Met
NM_133437.4:c.38454T>G (TTN) NP_597681.4:p.Ile12818Met
NR_038271.1:n.596+13029A>C (TTN-AS1)
NR_038272.1:n.2768-95A>C (TTN-AS1)
XM_011511729.1:c.64170T>G (TTN) XP_011510031.1:p.Ile21390Met
XM_011511730.1:c.38064T>G (TTN) XP_011510032.1:p.Ile12688Met
XM_011511731.1:c.37923T>G (TTN) XP_011510033.1:p.Ile12641Met
XM_017004819.1:c.63966T>G (TTN) XP_016860308.1:p.Ile21322Met
XM_017004820.1:c.59364T>G (TTN) XP_016860309.1:p.Ile19788Met
XM_017004821.1:c.59361T>G (TTN) XP_016860310.1:p.Ile19787Met
XM_017004822.1:c.56403T>G (TTN) XP_016860311.1:p.Ile18801Met
XM_017004823.1:c.38019T>G (TTN) XP_016860312.1:p.Ile12673Met
XM_024453094.1:c.59514T>G (TTN) XP_024308862.1:p.Ile19838Met
XM_024453095.1:c.59511T>G (TTN) XP_024308863.1:p.Ile19837Met
XM_024453096.1:c.58944T>G (TTN) XP_024308864.1:p.Ile19648Met
XM_024453097.1:c.56286T>G (TTN) XP_024308865.1:p.Ile18762Met
XM_024453098.1:c.56205T>G (TTN) XP_024308866.1:p.Ile18735Met
XM_024453099.1:c.37968T>G (TTN) XP_024308867.1:p.Ile12656Met
XM_024453100.1:c.27822T>G (TTN) XP_024308868.1:p.Ile9274Met