Canonical Allele Identifier: CA1310534392

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578078C= , CM000664.2:g.178578078C= GRCh38
NC_000002.11:g.179442805C= , CM000664.1:g.179442805C= GRCh37
NC_000002.10:g.179151051C= NCBI36
NG_011618.3:g.257725G= , LRG_391:g.257725G=
NG_051363.1:g.60252C=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.68437G= (TTN) MANE Select NP_001254479.2:p.Glu22813=
ENST00000589042.5:c.68437G= (TTN) MANE Select ENSP00000467141.1:p.Glu22813=
NM_001256850.1:c.63514G= (TTN) NP_001243779.1:p.Glu21172=
NM_003319.4:c.41242G= (TTN) NP_003310.4:p.Glu13748=
NM_133378.4:c.60733G= (TTN) NP_596869.4:p.Glu20245=
NM_133432.3:c.41617G= (TTN) NP_597676.3:p.Glu13873=
NM_133437.4:c.41818G= (TTN) NP_597681.4:p.Glu13940=
NR_038271.1:n.596+6629C= (TTN-AS1)
NR_038272.1:n.2044-4494C= (TTN-AS1)
ENST00000342175.10:c.41818G= (TTN) ENSP00000340554.6:p.Glu13940=
ENST00000342175.11:c.41818G= (TTN) ENSP00000340554.6:p.Glu13940=
ENST00000342992.10:c.60733G= (TTN) ENSP00000343764.6:p.Glu20245=
ENST00000342992.11:c.60733G= (TTN) ENSP00000343764.6:p.Glu20245=
ENST00000359218.10:c.41617G= (TTN) ENSP00000352154.5:p.Glu13873=
ENST00000359218.9:c.41617G= (TTN) ENSP00000352154.5:p.Glu13873=
ENST00000460472.6:c.41242G= (TTN) ENSP00000434586.1:p.Glu13748=
ENST00000591111.5:c.63514G= (TTN) ENSP00000465570.1:p.Glu21172=
ENST00000615779.4:c.63514G= (TTN) ENSP00000483597.1:p.Glu21172=
XM_011511729.1:c.67534G= (TTN) XP_011510031.1:p.Glu22512=
XM_011511730.1:c.41428G= (TTN) XP_011510032.1:p.Glu13810=
XM_011511731.1:c.41287G= (TTN) XP_011510033.1:p.Glu13763=
XM_017004819.1:c.67330G= (TTN) XP_016860308.1:p.Glu22444=
XM_017004820.1:c.62728G= (TTN) XP_016860309.1:p.Glu20910=
XM_017004821.1:c.62725G= (TTN) XP_016860310.1:p.Glu20909=
XM_017004822.1:c.59767G= (TTN) XP_016860311.1:p.Glu19923=
XM_017004823.1:c.41383G= (TTN) XP_016860312.1:p.Glu13795=
XM_024453094.1:c.62878G= (TTN) XP_024308862.1:p.Glu20960=
XM_024453095.1:c.62875G= (TTN) XP_024308863.1:p.Glu20959=
XM_024453096.1:c.62308G= (TTN) XP_024308864.1:p.Glu20770=
XM_024453097.1:c.59650G= (TTN) XP_024308865.1:p.Glu19884=
XM_024453098.1:c.59569G= (TTN) XP_024308866.1:p.Glu19857=
XM_024453099.1:c.41332G= (TTN) XP_024308867.1:p.Glu13778=
XM_024453100.1:c.31186G= (TTN) XP_024308868.1:p.Glu10396=