Canonical Allele Identifier: CA430243649
Community Standard Title: NM_001267550.2(TTN):c.93168A>T (p.Arg31056=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548458T>A , CM000664.2:g.178548458T>A GRCh38
NC_000002.11:g.179413185T>A , CM000664.1:g.179413185T>A GRCh37
NC_000002.10:g.179121431T>A NCBI36
NG_011618.3:g.287345A>T , LRG_391:g.287345A>T
NG_051363.1:g.30632T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.93168A>T (TTN) MANE Select NP_001254479.2:p.Arg31056=
ENST00000589042.5:c.93168A>T (TTN) MANE Select ENSP00000467141.1:p.Arg31056=
NM_001256850.1:c.88245A>T (TTN) NP_001243779.1:p.Arg29415=
NM_003319.4:c.65973A>T (TTN) NP_003310.4:p.Arg21991=
NM_133378.4:c.85464A>T (TTN) NP_596869.4:p.Arg28488=
NM_133432.3:c.66348A>T (TTN) NP_597676.3:p.Arg22116=
NM_133437.4:c.66549A>T (TTN) NP_597681.4:p.Arg22183=
NR_038271.1:n.447-22842T>A (TTN-AS1)
NR_038272.1:n.2043+6097T>A (TTN-AS1)
ENST00000342175.10:c.66549A>T (TTN) ENSP00000340554.6:p.Arg22183=
ENST00000342175.11:c.66549A>T (TTN) ENSP00000340554.6:p.Arg22183=
ENST00000342992.10:c.85464A>T (TTN) ENSP00000343764.6:p.Arg28488=
ENST00000342992.11:c.85464A>T (TTN) ENSP00000343764.6:p.Arg28488=
ENST00000359218.10:c.66348A>T (TTN) ENSP00000352154.5:p.Arg22116=
ENST00000359218.9:c.66348A>T (TTN) ENSP00000352154.5:p.Arg22116=
ENST00000460472.6:c.65973A>T (TTN) ENSP00000434586.1:p.Arg21991=
ENST00000591111.5:c.88245A>T (TTN) ENSP00000465570.1:p.Arg29415=
ENST00000615779.4:c.88245A>T (TTN) ENSP00000483597.1:p.Arg29415=
XM_011511729.1:c.92265A>T (TTN) XP_011510031.1:p.Arg30755=
XM_011511730.1:c.66159A>T (TTN) XP_011510032.1:p.Arg22053=
XM_011511731.1:c.66018A>T (TTN) XP_011510033.1:p.Arg22006=
XM_017004819.1:c.92061A>T (TTN) XP_016860308.1:p.Arg30687=
XM_017004820.1:c.87459A>T (TTN) XP_016860309.1:p.Arg29153=
XM_017004821.1:c.87456A>T (TTN) XP_016860310.1:p.Arg29152=
XM_017004822.1:c.84498A>T (TTN) XP_016860311.1:p.Arg28166=
XM_017004823.1:c.66114A>T (TTN) XP_016860312.1:p.Arg22038=
XM_024453094.1:c.87609A>T (TTN) XP_024308862.1:p.Arg29203=
XM_024453095.1:c.87606A>T (TTN) XP_024308863.1:p.Arg29202=
XM_024453096.1:c.87039A>T (TTN) XP_024308864.1:p.Arg29013=
XM_024453097.1:c.84381A>T (TTN) XP_024308865.1:p.Arg28127=
XM_024453098.1:c.84300A>T (TTN) XP_024308866.1:p.Arg28100=
XM_024453099.1:c.66063A>T (TTN) XP_024308867.1:p.Arg22021=
XM_024453100.1:c.55917A>T (TTN) XP_024308868.1:p.Arg18639=