Canonical Allele Identifier: CA1310530117

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567954C= , CM000664.2:g.178567954C= GRCh38
NC_000002.11:g.179432681C= , CM000664.1:g.179432681C= GRCh37
NC_000002.10:g.179140927C= NCBI36
NG_011618.3:g.267849G= , LRG_391:g.267849G=
NG_051363.1:g.50128C=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.78178G= (TTN) MANE Select NP_001254479.2:p.Glu26060=
ENST00000589042.5:c.78178G= (TTN) MANE Select ENSP00000467141.1:p.Glu26060=
NM_001256850.1:c.73255G= (TTN) NP_001243779.1:p.Glu24419=
NM_003319.4:c.50983G= (TTN) NP_003310.4:p.Glu16995=
NM_133378.4:c.70474G= (TTN) NP_596869.4:p.Glu23492=
NM_133432.3:c.51358G= (TTN) NP_597676.3:p.Glu17120=
NM_133437.4:c.51559G= (TTN) NP_597681.4:p.Glu17187=
NR_038271.1:n.447-3346C= (TTN-AS1)
NR_038272.1:n.2044-14618C= (TTN-AS1)
ENST00000342175.10:c.51559G= (TTN) ENSP00000340554.6:p.Glu17187=
ENST00000342175.11:c.51559G= (TTN) ENSP00000340554.6:p.Glu17187=
ENST00000342992.10:c.70474G= (TTN) ENSP00000343764.6:p.Glu23492=
ENST00000342992.11:c.70474G= (TTN) ENSP00000343764.6:p.Glu23492=
ENST00000359218.10:c.51358G= (TTN) ENSP00000352154.5:p.Glu17120=
ENST00000359218.9:c.51358G= (TTN) ENSP00000352154.5:p.Glu17120=
ENST00000460472.6:c.50983G= (TTN) ENSP00000434586.1:p.Glu16995=
ENST00000591111.5:c.73255G= (TTN) ENSP00000465570.1:p.Glu24419=
ENST00000615779.4:c.73255G= (TTN) ENSP00000483597.1:p.Glu24419=
XM_011511729.1:c.77275G= (TTN) XP_011510031.1:p.Glu25759=
XM_011511730.1:c.51169G= (TTN) XP_011510032.1:p.Glu17057=
XM_011511731.1:c.51028G= (TTN) XP_011510033.1:p.Glu17010=
XM_017004819.1:c.77071G= (TTN) XP_016860308.1:p.Glu25691=
XM_017004820.1:c.72469G= (TTN) XP_016860309.1:p.Glu24157=
XM_017004821.1:c.72466G= (TTN) XP_016860310.1:p.Glu24156=
XM_017004822.1:c.69508G= (TTN) XP_016860311.1:p.Glu23170=
XM_017004823.1:c.51124G= (TTN) XP_016860312.1:p.Glu17042=
XM_024453094.1:c.72619G= (TTN) XP_024308862.1:p.Glu24207=
XM_024453095.1:c.72616G= (TTN) XP_024308863.1:p.Glu24206=
XM_024453096.1:c.72049G= (TTN) XP_024308864.1:p.Glu24017=
XM_024453097.1:c.69391G= (TTN) XP_024308865.1:p.Glu23131=
XM_024453098.1:c.69310G= (TTN) XP_024308866.1:p.Glu23104=
XM_024453099.1:c.51073G= (TTN) XP_024308867.1:p.Glu17025=
XM_024453100.1:c.40927G= (TTN) XP_024308868.1:p.Glu13643=