Canonical Allele Identifier: CA349574356

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178608626A>T , CM000664.2:g.178608626A>T	GRCh38
NC_000002.11:g.179473353A>T , CM000664.1:g.179473353A>T	GRCh37
NC_000002.10:g.179181598A>T	NCBI36
NG_011618.3:g.227177T>A , LRG_391:g.227177T>A
NG_051363.1:g.90800A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.52385T>A (TTN) MANE Select	NP_001254479.2:p.Leu17462His
ENST00000589042.5:c.52385T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu17462His
NM_001256850.1:c.47462T>A (TTN)	NP_001243779.1:p.Leu15821His
NM_003319.4:c.25190T>A (TTN)	NP_003310.4:p.Leu8397His
NM_133378.4:c.44681T>A (TTN)	NP_596869.4:p.Leu14894His
NM_133432.3:c.25565T>A (TTN)	NP_597676.3:p.Leu8522His
NM_133437.4:c.25766T>A (TTN)	NP_597681.4:p.Leu8589His
NR_038271.1:n.782+360A>T (TTN-AS1)
ENST00000342175.10:c.25766T>A (TTN)	ENSP00000340554.6:p.Leu8589His
ENST00000342175.11:c.25766T>A (TTN)	ENSP00000340554.6:p.Leu8589His
ENST00000342992.10:c.44681T>A (TTN)	ENSP00000343764.6:p.Leu14894His
ENST00000342992.11:c.44681T>A (TTN)	ENSP00000343764.6:p.Leu14894His
ENST00000359218.10:c.25565T>A (TTN)	ENSP00000352154.5:p.Leu8522His
ENST00000359218.9:c.25565T>A (TTN)	ENSP00000352154.5:p.Leu8522His
ENST00000460472.6:c.25190T>A (TTN)	ENSP00000434586.1:p.Leu8397His
ENST00000591111.5:c.47462T>A (TTN)	ENSP00000465570.1:p.Leu15821His
ENST00000615779.4:c.47462T>A (TTN)	ENSP00000483597.1:p.Leu15821His
XM_011511729.1:c.51482T>A (TTN)	XP_011510031.1:p.Leu17161His
XM_011511730.1:c.25376T>A (TTN)	XP_011510032.1:p.Leu8459His
XM_011511731.1:c.25235T>A (TTN)	XP_011510033.1:p.Leu8412His
XM_017004819.1:c.51278T>A (TTN)	XP_016860308.1:p.Leu17093His
XM_017004820.1:c.46676T>A (TTN)	XP_016860309.1:p.Leu15559His
XM_017004821.1:c.46673T>A (TTN)	XP_016860310.1:p.Leu15558His
XM_017004822.1:c.43715T>A (TTN)	XP_016860311.1:p.Leu14572His
XM_017004823.1:c.25331T>A (TTN)	XP_016860312.1:p.Leu8444His
XM_024453094.1:c.46826T>A (TTN)	XP_024308862.1:p.Leu15609His
XM_024453095.1:c.46823T>A (TTN)	XP_024308863.1:p.Leu15608His
XM_024453096.1:c.46256T>A (TTN)	XP_024308864.1:p.Leu15419His
XM_024453097.1:c.43598T>A (TTN)	XP_024308865.1:p.Leu14533His
XM_024453098.1:c.43517T>A (TTN)	XP_024308866.1:p.Leu14506His
XM_024453099.1:c.25280T>A (TTN)	XP_024308867.1:p.Leu8427His
XM_024453100.1:c.15134T>A (TTN)	XP_024308868.1:p.Leu5045His