Canonical Allele Identifier: CA349489094

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548662T>A , CM000664.2:g.178548662T>A GRCh38
NC_000002.11:g.179413389T>A , CM000664.1:g.179413389T>A GRCh37
NC_000002.10:g.179121635T>A NCBI36
NG_011618.3:g.287141A>T , LRG_391:g.287141A>T
NG_051363.1:g.30836T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85260A>T (TTN) ENSP00000343764.6:p.Arg28420Ser
ENST00000342175.11:c.66345A>T (TTN) ENSP00000340554.6:p.Arg22115Ser
ENST00000359218.10:c.66144A>T (TTN) ENSP00000352154.5:p.Arg22048Ser
ENST00000342175.10:c.66345A>T (TTN) ENSP00000340554.6:p.Arg22115Ser
ENST00000342992.10:c.85260A>T (TTN) ENSP00000343764.6:p.Arg28420Ser
ENST00000359218.9:c.66144A>T (TTN) ENSP00000352154.5:p.Arg22048Ser
ENST00000460472.6:c.65769A>T (TTN) ENSP00000434586.1:p.Arg21923Ser
ENST00000589042.5:c.92964A>T (TTN) MANE Select ENSP00000467141.1:p.Arg30988Ser
ENST00000591111.5:c.88041A>T (TTN) ENSP00000465570.1:p.Arg29347Ser
ENST00000615779.4:c.88041A>T (TTN) ENSP00000483597.1:p.Arg29347Ser
NM_001256850.1:c.88041A>T (TTN) NP_001243779.1:p.Arg29347Ser
NM_001267550.2:c.92964A>T (TTN) MANE Select NP_001254479.2:p.Arg30988Ser
NM_003319.4:c.65769A>T (TTN) NP_003310.4:p.Arg21923Ser
NM_133378.4:c.85260A>T (TTN) NP_596869.4:p.Arg28420Ser
NM_133432.3:c.66144A>T (TTN) NP_597676.3:p.Arg22048Ser
NM_133437.4:c.66345A>T (TTN) NP_597681.4:p.Arg22115Ser
NR_038271.1:n.447-22638T>A (TTN-AS1)
NR_038272.1:n.2043+6301T>A (TTN-AS1)
XM_011511729.1:c.92061A>T (TTN) XP_011510031.1:p.Arg30687Ser
XM_011511730.1:c.65955A>T (TTN) XP_011510032.1:p.Arg21985Ser
XM_011511731.1:c.65814A>T (TTN) XP_011510033.1:p.Arg21938Ser
XM_017004819.1:c.91857A>T (TTN) XP_016860308.1:p.Arg30619Ser
XM_017004820.1:c.87255A>T (TTN) XP_016860309.1:p.Arg29085Ser
XM_017004821.1:c.87252A>T (TTN) XP_016860310.1:p.Arg29084Ser
XM_017004822.1:c.84294A>T (TTN) XP_016860311.1:p.Arg28098Ser
XM_017004823.1:c.65910A>T (TTN) XP_016860312.1:p.Arg21970Ser
XM_024453094.1:c.87405A>T (TTN) XP_024308862.1:p.Arg29135Ser
XM_024453095.1:c.87402A>T (TTN) XP_024308863.1:p.Arg29134Ser
XM_024453096.1:c.86835A>T (TTN) XP_024308864.1:p.Arg28945Ser
XM_024453097.1:c.84177A>T (TTN) XP_024308865.1:p.Arg28059Ser
XM_024453098.1:c.84096A>T (TTN) XP_024308866.1:p.Arg28032Ser
XM_024453099.1:c.65859A>T (TTN) XP_024308867.1:p.Arg21953Ser
XM_024453100.1:c.55713A>T (TTN) XP_024308868.1:p.Arg18571Ser