Canonical Allele Identifier: CA349459778

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545481A>G , CM000664.2:g.178545481A>G GRCh38
NC_000002.11:g.179410208A>G , CM000664.1:g.179410208A>G GRCh37
NC_000002.10:g.179118454A>G NCBI36
NG_011618.3:g.290322T>C , LRG_391:g.290322T>C
NG_051363.1:g.27655A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87925T>C (TTN) ENSP00000343764.6:p.Cys29309Arg
ENST00000342175.11:c.69010T>C (TTN) ENSP00000340554.6:p.Cys23004Arg
ENST00000359218.10:c.68809T>C (TTN) ENSP00000352154.5:p.Cys22937Arg
ENST00000342175.10:c.69010T>C (TTN) ENSP00000340554.6:p.Cys23004Arg
ENST00000342992.10:c.87925T>C (TTN) ENSP00000343764.6:p.Cys29309Arg
ENST00000359218.9:c.68809T>C (TTN) ENSP00000352154.5:p.Cys22937Arg
ENST00000460472.6:c.68434T>C (TTN) ENSP00000434586.1:p.Cys22812Arg
ENST00000589042.5:c.95629T>C (TTN) MANE Select ENSP00000467141.1:p.Cys31877Arg
ENST00000591111.5:c.90706T>C (TTN) ENSP00000465570.1:p.Cys30236Arg
ENST00000615779.4:c.90706T>C (TTN) ENSP00000483597.1:p.Cys30236Arg
NM_001256850.1:c.90706T>C (TTN) NP_001243779.1:p.Cys30236Arg
NM_001267550.2:c.95629T>C (TTN) MANE Select NP_001254479.2:p.Cys31877Arg
NM_003319.4:c.68434T>C (TTN) NP_003310.4:p.Cys22812Arg
NM_133378.4:c.87925T>C (TTN) NP_596869.4:p.Cys29309Arg
NM_133432.3:c.68809T>C (TTN) NP_597676.3:p.Cys22937Arg
NM_133437.4:c.69010T>C (TTN) NP_597681.4:p.Cys23004Arg
NR_038271.1:n.446+21845A>G (TTN-AS1)
NR_038272.1:n.2043+3120A>G (TTN-AS1)
XM_011511729.1:c.94726T>C (TTN) XP_011510031.1:p.Cys31576Arg
XM_011511730.1:c.68620T>C (TTN) XP_011510032.1:p.Cys22874Arg
XM_011511731.1:c.68479T>C (TTN) XP_011510033.1:p.Cys22827Arg
XM_017004819.1:c.94522T>C (TTN) XP_016860308.1:p.Cys31508Arg
XM_017004820.1:c.89920T>C (TTN) XP_016860309.1:p.Cys29974Arg
XM_017004821.1:c.89917T>C (TTN) XP_016860310.1:p.Cys29973Arg
XM_017004822.1:c.86959T>C (TTN) XP_016860311.1:p.Cys28987Arg
XM_017004823.1:c.68575T>C (TTN) XP_016860312.1:p.Cys22859Arg
XM_024453094.1:c.90070T>C (TTN) XP_024308862.1:p.Cys30024Arg
XM_024453095.1:c.90067T>C (TTN) XP_024308863.1:p.Cys30023Arg
XM_024453096.1:c.89500T>C (TTN) XP_024308864.1:p.Cys29834Arg
XM_024453097.1:c.86842T>C (TTN) XP_024308865.1:p.Cys28948Arg
XM_024453098.1:c.86761T>C (TTN) XP_024308866.1:p.Cys28921Arg
XM_024453099.1:c.68524T>C (TTN) XP_024308867.1:p.Cys22842Arg
XM_024453100.1:c.58378T>C (TTN) XP_024308868.1:p.Cys19460Arg