Canonical Allele Identifier: CA349459782

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87925T>A (TTN) ENSP00000343764.6:p.Cys29309Ser
ENST00000342175.11:c.69010T>A (TTN) ENSP00000340554.6:p.Cys23004Ser
ENST00000359218.10:c.68809T>A (TTN) ENSP00000352154.5:p.Cys22937Ser
ENST00000342175.10:c.69010T>A (TTN) ENSP00000340554.6:p.Cys23004Ser
ENST00000342992.10:c.87925T>A (TTN) ENSP00000343764.6:p.Cys29309Ser
ENST00000359218.9:c.68809T>A (TTN) ENSP00000352154.5:p.Cys22937Ser
ENST00000460472.6:c.68434T>A (TTN) ENSP00000434586.1:p.Cys22812Ser
ENST00000589042.5:c.95629T>A (TTN) MANE Select ENSP00000467141.1:p.Cys31877Ser
ENST00000591111.5:c.90706T>A (TTN) ENSP00000465570.1:p.Cys30236Ser
ENST00000615779.4:c.90706T>A (TTN) ENSP00000483597.1:p.Cys30236Ser
NM_001256850.1:c.90706T>A (TTN) NP_001243779.1:p.Cys30236Ser
NM_001267550.2:c.95629T>A (TTN) MANE Select NP_001254479.2:p.Cys31877Ser
NM_003319.4:c.68434T>A (TTN) NP_003310.4:p.Cys22812Ser
NM_133378.4:c.87925T>A (TTN) NP_596869.4:p.Cys29309Ser
NM_133432.3:c.68809T>A (TTN) NP_597676.3:p.Cys22937Ser
NM_133437.4:c.69010T>A (TTN) NP_597681.4:p.Cys23004Ser
NR_038271.1:n.446+21845A>T (TTN-AS1)
NR_038272.1:n.2043+3120A>T (TTN-AS1)
XM_011511729.1:c.94726T>A (TTN) XP_011510031.1:p.Cys31576Ser
XM_011511730.1:c.68620T>A (TTN) XP_011510032.1:p.Cys22874Ser
XM_011511731.1:c.68479T>A (TTN) XP_011510033.1:p.Cys22827Ser
XM_017004819.1:c.94522T>A (TTN) XP_016860308.1:p.Cys31508Ser
XM_017004820.1:c.89920T>A (TTN) XP_016860309.1:p.Cys29974Ser
XM_017004821.1:c.89917T>A (TTN) XP_016860310.1:p.Cys29973Ser
XM_017004822.1:c.86959T>A (TTN) XP_016860311.1:p.Cys28987Ser
XM_017004823.1:c.68575T>A (TTN) XP_016860312.1:p.Cys22859Ser
XM_024453094.1:c.90070T>A (TTN) XP_024308862.1:p.Cys30024Ser
XM_024453095.1:c.90067T>A (TTN) XP_024308863.1:p.Cys30023Ser
XM_024453096.1:c.89500T>A (TTN) XP_024308864.1:p.Cys29834Ser
XM_024453097.1:c.86842T>A (TTN) XP_024308865.1:p.Cys28948Ser
XM_024453098.1:c.86761T>A (TTN) XP_024308866.1:p.Cys28921Ser
XM_024453099.1:c.68524T>A (TTN) XP_024308867.1:p.Cys22842Ser
XM_024453100.1:c.58378T>A (TTN) XP_024308868.1:p.Cys19460Ser