Canonical Allele Identifier: CA349480065

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455740T>G (hg19) ; chr2:g.178591013T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591013T>G , CM000664.2:g.178591013T>G	GRCh38
NC_000002.11:g.179455740T>G , CM000664.1:g.179455740T>G	GRCh37
NC_000002.10:g.179163986T>G	NCBI36
NG_011618.3:g.244790A>C , LRG_391:g.244790A>C
NG_051363.1:g.73187T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53008A>C (TTN)	ENSP00000343764.6:p.Lys17670Gln
ENST00000342175.11:c.34093A>C (TTN)	ENSP00000340554.6:p.Lys11365Gln
ENST00000359218.10:c.33892A>C (TTN)	ENSP00000352154.5:p.Lys11298Gln
ENST00000342175.10:c.34093A>C (TTN)	ENSP00000340554.6:p.Lys11365Gln
ENST00000342992.10:c.53008A>C (TTN)	ENSP00000343764.6:p.Lys17670Gln
ENST00000359218.9:c.33892A>C (TTN)	ENSP00000352154.5:p.Lys11298Gln
ENST00000460472.6:c.33517A>C (TTN)	ENSP00000434586.1:p.Lys11173Gln
ENST00000589042.5:c.60712A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys20238Gln
ENST00000591111.5:c.55789A>C (TTN)	ENSP00000465570.1:p.Lys18597Gln
ENST00000615779.4:c.55789A>C (TTN)	ENSP00000483597.1:p.Lys18597Gln
NM_001256850.1:c.55789A>C (TTN)	NP_001243779.1:p.Lys18597Gln
NM_001267550.2:c.60712A>C (TTN) MANE Select	NP_001254479.2:p.Lys20238Gln
NM_003319.4:c.33517A>C (TTN)	NP_003310.4:p.Lys11173Gln
NM_133378.4:c.53008A>C (TTN)	NP_596869.4:p.Lys17670Gln
NM_133432.3:c.33892A>C (TTN)	NP_597676.3:p.Lys11298Gln
NM_133437.4:c.34093A>C (TTN)	NP_597681.4:p.Lys11365Gln
NR_038271.1:n.597-6583T>G (TTN-AS1)
NR_038272.1:n.3189-126T>G (TTN-AS1)
XM_011511729.1:c.59809A>C (TTN)	XP_011510031.1:p.Lys19937Gln
XM_011511730.1:c.33703A>C (TTN)	XP_011510032.1:p.Lys11235Gln
XM_011511731.1:c.33562A>C (TTN)	XP_011510033.1:p.Lys11188Gln
XM_017004819.1:c.59605A>C (TTN)	XP_016860308.1:p.Lys19869Gln
XM_017004820.1:c.55003A>C (TTN)	XP_016860309.1:p.Lys18335Gln
XM_017004821.1:c.55000A>C (TTN)	XP_016860310.1:p.Lys18334Gln
XM_017004822.1:c.52042A>C (TTN)	XP_016860311.1:p.Lys17348Gln
XM_017004823.1:c.33658A>C (TTN)	XP_016860312.1:p.Lys11220Gln
XM_024453094.1:c.55153A>C (TTN)	XP_024308862.1:p.Lys18385Gln
XM_024453095.1:c.55150A>C (TTN)	XP_024308863.1:p.Lys18384Gln
XM_024453096.1:c.54583A>C (TTN)	XP_024308864.1:p.Lys18195Gln
XM_024453097.1:c.51925A>C (TTN)	XP_024308865.1:p.Lys17309Gln
XM_024453098.1:c.51844A>C (TTN)	XP_024308866.1:p.Lys17282Gln
XM_024453099.1:c.33607A>C (TTN)	XP_024308867.1:p.Lys11203Gln
XM_024453100.1:c.23461A>C (TTN)	XP_024308868.1:p.Lys7821Gln