Canonical Allele Identifier: CA349519052

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179418372T>A (hg19) ; chr2:g.178553645T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553645T>A , CM000664.2:g.178553645T>A	GRCh38
NC_000002.11:g.179418372T>A , CM000664.1:g.179418372T>A	GRCh37
NC_000002.10:g.179126618T>A	NCBI36
NG_011618.3:g.282158A>T , LRG_391:g.282158A>T
NG_051363.1:g.35819T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.81656A>T (TTN)	ENSP00000343764.6:p.Lys27219Ile
ENST00000342175.11:c.62741A>T (TTN)	ENSP00000340554.6:p.Lys20914Ile
ENST00000359218.10:c.62540A>T (TTN)	ENSP00000352154.5:p.Lys20847Ile
ENST00000342175.10:c.62741A>T (TTN)	ENSP00000340554.6:p.Lys20914Ile
ENST00000342992.10:c.81656A>T (TTN)	ENSP00000343764.6:p.Lys27219Ile
ENST00000359218.9:c.62540A>T (TTN)	ENSP00000352154.5:p.Lys20847Ile
ENST00000460472.6:c.62165A>T (TTN)	ENSP00000434586.1:p.Lys20722Ile
ENST00000589042.5:c.89360A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys29787Ile
ENST00000591111.5:c.84437A>T (TTN)	ENSP00000465570.1:p.Lys28146Ile
ENST00000615779.4:c.84437A>T (TTN)	ENSP00000483597.1:p.Lys28146Ile
NM_001256850.1:c.84437A>T (TTN)	NP_001243779.1:p.Lys28146Ile
NM_001267550.2:c.89360A>T (TTN) MANE Select	NP_001254479.2:p.Lys29787Ile
NM_003319.4:c.62165A>T (TTN)	NP_003310.4:p.Lys20722Ile
NM_133378.4:c.81656A>T (TTN)	NP_596869.4:p.Lys27219Ile
NM_133432.3:c.62540A>T (TTN)	NP_597676.3:p.Lys20847Ile
NM_133437.4:c.62741A>T (TTN)	NP_597681.4:p.Lys20914Ile
NR_038271.1:n.447-17655T>A (TTN-AS1)
NR_038272.1:n.2043+11284T>A (TTN-AS1)
XM_011511729.1:c.88457A>T (TTN)	XP_011510031.1:p.Lys29486Ile
XM_011511730.1:c.62351A>T (TTN)	XP_011510032.1:p.Lys20784Ile
XM_011511731.1:c.62210A>T (TTN)	XP_011510033.1:p.Lys20737Ile
XM_017004819.1:c.88253A>T (TTN)	XP_016860308.1:p.Lys29418Ile
XM_017004820.1:c.83651A>T (TTN)	XP_016860309.1:p.Lys27884Ile
XM_017004821.1:c.83648A>T (TTN)	XP_016860310.1:p.Lys27883Ile
XM_017004822.1:c.80690A>T (TTN)	XP_016860311.1:p.Lys26897Ile
XM_017004823.1:c.62306A>T (TTN)	XP_016860312.1:p.Lys20769Ile
XM_024453094.1:c.83801A>T (TTN)	XP_024308862.1:p.Lys27934Ile
XM_024453095.1:c.83798A>T (TTN)	XP_024308863.1:p.Lys27933Ile
XM_024453096.1:c.83231A>T (TTN)	XP_024308864.1:p.Lys27744Ile
XM_024453097.1:c.80573A>T (TTN)	XP_024308865.1:p.Lys26858Ile
XM_024453098.1:c.80492A>T (TTN)	XP_024308866.1:p.Lys26831Ile
XM_024453099.1:c.62255A>T (TTN)	XP_024308867.1:p.Lys20752Ile
XM_024453100.1:c.52109A>T (TTN)	XP_024308868.1:p.Lys17370Ile