Canonical Allele Identifier: CA349459718

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87931T>A (TTN) ENSP00000343764.6:p.Tyr29311Asn
ENST00000342175.11:c.69016T>A (TTN) ENSP00000340554.6:p.Tyr23006Asn
ENST00000359218.10:c.68815T>A (TTN) ENSP00000352154.5:p.Tyr22939Asn
ENST00000342175.10:c.69016T>A (TTN) ENSP00000340554.6:p.Tyr23006Asn
ENST00000342992.10:c.87931T>A (TTN) ENSP00000343764.6:p.Tyr29311Asn
ENST00000359218.9:c.68815T>A (TTN) ENSP00000352154.5:p.Tyr22939Asn
ENST00000460472.6:c.68440T>A (TTN) ENSP00000434586.1:p.Tyr22814Asn
ENST00000589042.5:c.95635T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr31879Asn
ENST00000591111.5:c.90712T>A (TTN) ENSP00000465570.1:p.Tyr30238Asn
ENST00000615779.4:c.90712T>A (TTN) ENSP00000483597.1:p.Tyr30238Asn
NM_001256850.1:c.90712T>A (TTN) NP_001243779.1:p.Tyr30238Asn
NM_001267550.2:c.95635T>A (TTN) MANE Select NP_001254479.2:p.Tyr31879Asn
NM_003319.4:c.68440T>A (TTN) NP_003310.4:p.Tyr22814Asn
NM_133378.4:c.87931T>A (TTN) NP_596869.4:p.Tyr29311Asn
NM_133432.3:c.68815T>A (TTN) NP_597676.3:p.Tyr22939Asn
NM_133437.4:c.69016T>A (TTN) NP_597681.4:p.Tyr23006Asn
NR_038271.1:n.446+21839A>T (TTN-AS1)
NR_038272.1:n.2043+3114A>T (TTN-AS1)
XM_011511729.1:c.94732T>A (TTN) XP_011510031.1:p.Tyr31578Asn
XM_011511730.1:c.68626T>A (TTN) XP_011510032.1:p.Tyr22876Asn
XM_011511731.1:c.68485T>A (TTN) XP_011510033.1:p.Tyr22829Asn
XM_017004819.1:c.94528T>A (TTN) XP_016860308.1:p.Tyr31510Asn
XM_017004820.1:c.89926T>A (TTN) XP_016860309.1:p.Tyr29976Asn
XM_017004821.1:c.89923T>A (TTN) XP_016860310.1:p.Tyr29975Asn
XM_017004822.1:c.86965T>A (TTN) XP_016860311.1:p.Tyr28989Asn
XM_017004823.1:c.68581T>A (TTN) XP_016860312.1:p.Tyr22861Asn
XM_024453094.1:c.90076T>A (TTN) XP_024308862.1:p.Tyr30026Asn
XM_024453095.1:c.90073T>A (TTN) XP_024308863.1:p.Tyr30025Asn
XM_024453096.1:c.89506T>A (TTN) XP_024308864.1:p.Tyr29836Asn
XM_024453097.1:c.86848T>A (TTN) XP_024308865.1:p.Tyr28950Asn
XM_024453098.1:c.86767T>A (TTN) XP_024308866.1:p.Tyr28923Asn
XM_024453099.1:c.68530T>A (TTN) XP_024308867.1:p.Tyr22844Asn
XM_024453100.1:c.58384T>A (TTN) XP_024308868.1:p.Tyr19462Asn