Canonical Allele Identifier: CA349459709

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545475A>C , CM000664.2:g.178545475A>C GRCh38
NC_000002.11:g.179410202A>C , CM000664.1:g.179410202A>C GRCh37
NC_000002.10:g.179118448A>C NCBI36
NG_011618.3:g.290328T>G , LRG_391:g.290328T>G
NG_051363.1:g.27649A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87931T>G (TTN) ENSP00000343764.6:p.Tyr29311Asp
ENST00000342175.11:c.69016T>G (TTN) ENSP00000340554.6:p.Tyr23006Asp
ENST00000359218.10:c.68815T>G (TTN) ENSP00000352154.5:p.Tyr22939Asp
ENST00000342175.10:c.69016T>G (TTN) ENSP00000340554.6:p.Tyr23006Asp
ENST00000342992.10:c.87931T>G (TTN) ENSP00000343764.6:p.Tyr29311Asp
ENST00000359218.9:c.68815T>G (TTN) ENSP00000352154.5:p.Tyr22939Asp
ENST00000460472.6:c.68440T>G (TTN) ENSP00000434586.1:p.Tyr22814Asp
ENST00000589042.5:c.95635T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr31879Asp
ENST00000591111.5:c.90712T>G (TTN) ENSP00000465570.1:p.Tyr30238Asp
ENST00000615779.4:c.90712T>G (TTN) ENSP00000483597.1:p.Tyr30238Asp
NM_001256850.1:c.90712T>G (TTN) NP_001243779.1:p.Tyr30238Asp
NM_001267550.2:c.95635T>G (TTN) MANE Select NP_001254479.2:p.Tyr31879Asp
NM_003319.4:c.68440T>G (TTN) NP_003310.4:p.Tyr22814Asp
NM_133378.4:c.87931T>G (TTN) NP_596869.4:p.Tyr29311Asp
NM_133432.3:c.68815T>G (TTN) NP_597676.3:p.Tyr22939Asp
NM_133437.4:c.69016T>G (TTN) NP_597681.4:p.Tyr23006Asp
NR_038271.1:n.446+21839A>C (TTN-AS1)
NR_038272.1:n.2043+3114A>C (TTN-AS1)
XM_011511729.1:c.94732T>G (TTN) XP_011510031.1:p.Tyr31578Asp
XM_011511730.1:c.68626T>G (TTN) XP_011510032.1:p.Tyr22876Asp
XM_011511731.1:c.68485T>G (TTN) XP_011510033.1:p.Tyr22829Asp
XM_017004819.1:c.94528T>G (TTN) XP_016860308.1:p.Tyr31510Asp
XM_017004820.1:c.89926T>G (TTN) XP_016860309.1:p.Tyr29976Asp
XM_017004821.1:c.89923T>G (TTN) XP_016860310.1:p.Tyr29975Asp
XM_017004822.1:c.86965T>G (TTN) XP_016860311.1:p.Tyr28989Asp
XM_017004823.1:c.68581T>G (TTN) XP_016860312.1:p.Tyr22861Asp
XM_024453094.1:c.90076T>G (TTN) XP_024308862.1:p.Tyr30026Asp
XM_024453095.1:c.90073T>G (TTN) XP_024308863.1:p.Tyr30025Asp
XM_024453096.1:c.89506T>G (TTN) XP_024308864.1:p.Tyr29836Asp
XM_024453097.1:c.86848T>G (TTN) XP_024308865.1:p.Tyr28950Asp
XM_024453098.1:c.86767T>G (TTN) XP_024308866.1:p.Tyr28923Asp
XM_024453099.1:c.68530T>G (TTN) XP_024308867.1:p.Tyr22844Asp
XM_024453100.1:c.58384T>G (TTN) XP_024308868.1:p.Tyr19462Asp