Canonical Allele Identifier: CA349406943

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530474T>A , CM000664.2:g.178530474T>A GRCh38
NC_000002.11:g.179395201T>A , CM000664.1:g.179395201T>A GRCh37
NC_000002.10:g.179103447T>A NCBI36
NG_011618.3:g.305329A>T , LRG_391:g.305329A>T
NG_051363.1:g.12648T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98437A>T (TTN) ENSP00000343764.6:p.Ser32813Cys
ENST00000342175.11:c.79522A>T (TTN) ENSP00000340554.6:p.Ser26508Cys
ENST00000359218.10:c.79321A>T (TTN) ENSP00000352154.5:p.Ser26441Cys
ENST00000342175.10:c.79522A>T (TTN) ENSP00000340554.6:p.Ser26508Cys
ENST00000342992.10:c.98437A>T (TTN) ENSP00000343764.6:p.Ser32813Cys
ENST00000359218.9:c.79321A>T (TTN) ENSP00000352154.5:p.Ser26441Cys
ENST00000460472.6:c.78946A>T (TTN) ENSP00000434586.1:p.Ser26316Cys
ENST00000589042.5:c.106141A>T (TTN) MANE Select ENSP00000467141.1:p.Ser35381Cys
ENST00000591111.5:c.101218A>T (TTN) ENSP00000465570.1:p.Ser33740Cys
ENST00000615779.4:c.101218A>T (TTN) ENSP00000483597.1:p.Ser33740Cys
NM_001256850.1:c.101218A>T (TTN) NP_001243779.1:p.Ser33740Cys
NM_001267550.2:c.106141A>T (TTN) MANE Select NP_001254479.2:p.Ser35381Cys
NM_003319.4:c.78946A>T (TTN) NP_003310.4:p.Ser26316Cys
NM_133378.4:c.98437A>T (TTN) NP_596869.4:p.Ser32813Cys
NM_133432.3:c.79321A>T (TTN) NP_597676.3:p.Ser26441Cys
NM_133437.4:c.79522A>T (TTN) NP_597681.4:p.Ser26508Cys
NR_038271.1:n.446+6838T>A (TTN-AS1)
NR_038272.1:n.220-5258T>A (TTN-AS1)
XM_011511729.1:c.105238A>T (TTN) XP_011510031.1:p.Ser35080Cys
XM_011511730.1:c.79132A>T (TTN) XP_011510032.1:p.Ser26378Cys
XM_011511731.1:c.78991A>T (TTN) XP_011510033.1:p.Ser26331Cys
XM_017004819.1:c.105034A>T (TTN) XP_016860308.1:p.Ser35012Cys
XM_017004820.1:c.100432A>T (TTN) XP_016860309.1:p.Ser33478Cys
XM_017004821.1:c.100429A>T (TTN) XP_016860310.1:p.Ser33477Cys
XM_017004822.1:c.97471A>T (TTN) XP_016860311.1:p.Ser32491Cys
XM_017004823.1:c.79087A>T (TTN) XP_016860312.1:p.Ser26363Cys
XM_024453094.1:c.100582A>T (TTN) XP_024308862.1:p.Ser33528Cys
XM_024453095.1:c.100579A>T (TTN) XP_024308863.1:p.Ser33527Cys
XM_024453096.1:c.100012A>T (TTN) XP_024308864.1:p.Ser33338Cys
XM_024453097.1:c.97354A>T (TTN) XP_024308865.1:p.Ser32452Cys
XM_024453098.1:c.97273A>T (TTN) XP_024308866.1:p.Ser32425Cys
XM_024453099.1:c.79036A>T (TTN) XP_024308867.1:p.Ser26346Cys
XM_024453100.1:c.68890A>T (TTN) XP_024308868.1:p.Ser22964Cys