Canonical Allele Identifier: CA349411815

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532215T>A , CM000664.2:g.178532215T>A GRCh38
NC_000002.11:g.179396942T>A , CM000664.1:g.179396942T>A GRCh37
NC_000002.10:g.179105188T>A NCBI36
NG_011618.3:g.303588A>T , LRG_391:g.303588A>T
NG_051363.1:g.14389T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96696A>T (TTN) ENSP00000343764.6:p.Arg32232Ser
ENST00000342175.11:c.77781A>T (TTN) ENSP00000340554.6:p.Arg25927Ser
ENST00000359218.10:c.77580A>T (TTN) ENSP00000352154.5:p.Arg25860Ser
ENST00000342175.10:c.77781A>T (TTN) ENSP00000340554.6:p.Arg25927Ser
ENST00000342992.10:c.96696A>T (TTN) ENSP00000343764.6:p.Arg32232Ser
ENST00000359218.9:c.77580A>T (TTN) ENSP00000352154.5:p.Arg25860Ser
ENST00000460472.6:c.77205A>T (TTN) ENSP00000434586.1:p.Arg25735Ser
ENST00000589042.5:c.104400A>T (TTN) MANE Select ENSP00000467141.1:p.Arg34800Ser
ENST00000591111.5:c.99477A>T (TTN) ENSP00000465570.1:p.Arg33159Ser
ENST00000615779.4:c.99477A>T (TTN) ENSP00000483597.1:p.Arg33159Ser
NM_001256850.1:c.99477A>T (TTN) NP_001243779.1:p.Arg33159Ser
NM_001267550.2:c.104400A>T (TTN) MANE Select NP_001254479.2:p.Arg34800Ser
NM_003319.4:c.77205A>T (TTN) NP_003310.4:p.Arg25735Ser
NM_133378.4:c.96696A>T (TTN) NP_596869.4:p.Arg32232Ser
NM_133432.3:c.77580A>T (TTN) NP_597676.3:p.Arg25860Ser
NM_133437.4:c.77781A>T (TTN) NP_597681.4:p.Arg25927Ser
NR_038271.1:n.446+8579T>A (TTN-AS1)
NR_038272.1:n.220-3517T>A (TTN-AS1)
XM_011511729.1:c.103497A>T (TTN) XP_011510031.1:p.Arg34499Ser
XM_011511730.1:c.77391A>T (TTN) XP_011510032.1:p.Arg25797Ser
XM_011511731.1:c.77250A>T (TTN) XP_011510033.1:p.Arg25750Ser
XM_017004819.1:c.103293A>T (TTN) XP_016860308.1:p.Arg34431Ser
XM_017004820.1:c.98691A>T (TTN) XP_016860309.1:p.Arg32897Ser
XM_017004821.1:c.98688A>T (TTN) XP_016860310.1:p.Arg32896Ser
XM_017004822.1:c.95730A>T (TTN) XP_016860311.1:p.Arg31910Ser
XM_017004823.1:c.77346A>T (TTN) XP_016860312.1:p.Arg25782Ser
XM_024453094.1:c.98841A>T (TTN) XP_024308862.1:p.Arg32947Ser
XM_024453095.1:c.98838A>T (TTN) XP_024308863.1:p.Arg32946Ser
XM_024453096.1:c.98271A>T (TTN) XP_024308864.1:p.Arg32757Ser
XM_024453097.1:c.95613A>T (TTN) XP_024308865.1:p.Arg31871Ser
XM_024453098.1:c.95532A>T (TTN) XP_024308866.1:p.Arg31844Ser
XM_024453099.1:c.77295A>T (TTN) XP_024308867.1:p.Arg25765Ser
XM_024453100.1:c.67149A>T (TTN) XP_024308868.1:p.Arg22383Ser