Canonical Allele Identifier: CA1992179

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178588909C>T , CM000664.2:g.178588909C>T	GRCh38
NC_000002.11:g.179453636C>T , CM000664.1:g.179453636C>T	GRCh37
NC_000002.10:g.179161882C>T	NCBI36
NG_011618.3:g.246894G>A , LRG_391:g.246894G>A
NG_051363.1:g.71083C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.62816G>A (TTN) MANE Select	NP_001254479.2:p.Arg20939His
ENST00000589042.5:c.62816G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg20939His
NM_001256850.1:c.57893G>A (TTN)	NP_001243779.1:p.Arg19298His
NM_003319.4:c.35621G>A (TTN)	NP_003310.4:p.Arg11874His
NM_133378.4:c.55112G>A (TTN)	NP_596869.4:p.Arg18371His
NM_133432.3:c.35996G>A (TTN)	NP_597676.3:p.Arg11999His
NM_133437.4:c.36197G>A (TTN)	NP_597681.4:p.Arg12066His
NR_038271.1:n.597-8687C>T (TTN-AS1)
NR_038272.1:n.3189-2230C>T (TTN-AS1)
ENST00000342175.10:c.36197G>A (TTN)	ENSP00000340554.6:p.Arg12066His
ENST00000342175.11:c.36197G>A (TTN)	ENSP00000340554.6:p.Arg12066His
ENST00000342992.10:c.55112G>A (TTN)	ENSP00000343764.6:p.Arg18371His
ENST00000342992.11:c.55112G>A (TTN)	ENSP00000343764.6:p.Arg18371His
ENST00000359218.10:c.35996G>A (TTN)	ENSP00000352154.5:p.Arg11999His
ENST00000359218.9:c.35996G>A (TTN)	ENSP00000352154.5:p.Arg11999His
ENST00000460472.6:c.35621G>A (TTN)	ENSP00000434586.1:p.Arg11874His
ENST00000591111.5:c.57893G>A (TTN)	ENSP00000465570.1:p.Arg19298His
ENST00000615779.4:c.57893G>A (TTN)	ENSP00000483597.1:p.Arg19298His
XM_011511729.1:c.61913G>A (TTN)	XP_011510031.1:p.Arg20638His
XM_011511730.1:c.35807G>A (TTN)	XP_011510032.1:p.Arg11936His
XM_011511731.1:c.35666G>A (TTN)	XP_011510033.1:p.Arg11889His
XM_017004819.1:c.61709G>A (TTN)	XP_016860308.1:p.Arg20570His
XM_017004820.1:c.57107G>A (TTN)	XP_016860309.1:p.Arg19036His
XM_017004821.1:c.57104G>A (TTN)	XP_016860310.1:p.Arg19035His
XM_017004822.1:c.54146G>A (TTN)	XP_016860311.1:p.Arg18049His
XM_017004823.1:c.35762G>A (TTN)	XP_016860312.1:p.Arg11921His
XM_024453094.1:c.57257G>A (TTN)	XP_024308862.1:p.Arg19086His
XM_024453095.1:c.57254G>A (TTN)	XP_024308863.1:p.Arg19085His
XM_024453096.1:c.56687G>A (TTN)	XP_024308864.1:p.Arg18896His
XM_024453097.1:c.54029G>A (TTN)	XP_024308865.1:p.Arg18010His
XM_024453098.1:c.53948G>A (TTN)	XP_024308866.1:p.Arg17983His
XM_024453099.1:c.35711G>A (TTN)	XP_024308867.1:p.Arg11904His
XM_024453100.1:c.25565G>A (TTN)	XP_024308868.1:p.Arg8522His