Canonical Allele Identifier: CA349535662

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557813T>A , CM000664.2:g.178557813T>A GRCh38
NC_000002.11:g.179422540T>A , CM000664.1:g.179422540T>A GRCh37
NC_000002.10:g.179130786T>A NCBI36
NG_011618.3:g.277990A>T , LRG_391:g.277990A>T
NG_051363.1:g.39987T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79837A>T (TTN) ENSP00000343764.6:p.Ser26613Cys
ENST00000342175.11:c.60922A>T (TTN) ENSP00000340554.6:p.Ser20308Cys
ENST00000359218.10:c.60721A>T (TTN) ENSP00000352154.5:p.Ser20241Cys
ENST00000342175.10:c.60922A>T (TTN) ENSP00000340554.6:p.Ser20308Cys
ENST00000342992.10:c.79837A>T (TTN) ENSP00000343764.6:p.Ser26613Cys
ENST00000359218.9:c.60721A>T (TTN) ENSP00000352154.5:p.Ser20241Cys
ENST00000460472.6:c.60346A>T (TTN) ENSP00000434586.1:p.Ser20116Cys
ENST00000589042.5:c.87541A>T (TTN) MANE Select ENSP00000467141.1:p.Ser29181Cys
ENST00000591111.5:c.82618A>T (TTN) ENSP00000465570.1:p.Ser27540Cys
ENST00000615779.4:c.82618A>T (TTN) ENSP00000483597.1:p.Ser27540Cys
NM_001256850.1:c.82618A>T (TTN) NP_001243779.1:p.Ser27540Cys
NM_001267550.2:c.87541A>T (TTN) MANE Select NP_001254479.2:p.Ser29181Cys
NM_003319.4:c.60346A>T (TTN) NP_003310.4:p.Ser20116Cys
NM_133378.4:c.79837A>T (TTN) NP_596869.4:p.Ser26613Cys
NM_133432.3:c.60721A>T (TTN) NP_597676.3:p.Ser20241Cys
NM_133437.4:c.60922A>T (TTN) NP_597681.4:p.Ser20308Cys
NR_038271.1:n.447-13487T>A (TTN-AS1)
NR_038272.1:n.2043+15452T>A (TTN-AS1)
XM_011511729.1:c.86638A>T (TTN) XP_011510031.1:p.Ser28880Cys
XM_011511730.1:c.60532A>T (TTN) XP_011510032.1:p.Ser20178Cys
XM_011511731.1:c.60391A>T (TTN) XP_011510033.1:p.Ser20131Cys
XM_017004819.1:c.86434A>T (TTN) XP_016860308.1:p.Ser28812Cys
XM_017004820.1:c.81832A>T (TTN) XP_016860309.1:p.Ser27278Cys
XM_017004821.1:c.81829A>T (TTN) XP_016860310.1:p.Ser27277Cys
XM_017004822.1:c.78871A>T (TTN) XP_016860311.1:p.Ser26291Cys
XM_017004823.1:c.60487A>T (TTN) XP_016860312.1:p.Ser20163Cys
XM_024453094.1:c.81982A>T (TTN) XP_024308862.1:p.Ser27328Cys
XM_024453095.1:c.81979A>T (TTN) XP_024308863.1:p.Ser27327Cys
XM_024453096.1:c.81412A>T (TTN) XP_024308864.1:p.Ser27138Cys
XM_024453097.1:c.78754A>T (TTN) XP_024308865.1:p.Ser26252Cys
XM_024453098.1:c.78673A>T (TTN) XP_024308866.1:p.Ser26225Cys
XM_024453099.1:c.60436A>T (TTN) XP_024308867.1:p.Ser20146Cys
XM_024453100.1:c.50290A>T (TTN) XP_024308868.1:p.Ser16764Cys