Canonical Allele Identifier: CA349423104

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444027T>A (hg19) ; chr2:g.178579300T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579300T>A , CM000664.2:g.178579300T>A	GRCh38
NC_000002.11:g.179444027T>A , CM000664.1:g.179444027T>A	GRCh37
NC_000002.10:g.179152273T>A	NCBI36
NG_011618.3:g.256503A>T , LRG_391:g.256503A>T
NG_051363.1:g.61474T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60026A>T (TTN)	ENSP00000343764.6:p.Lys20009Met
ENST00000342175.11:c.41111A>T (TTN)	ENSP00000340554.6:p.Lys13704Met
ENST00000359218.10:c.40910A>T (TTN)	ENSP00000352154.5:p.Lys13637Met
ENST00000342175.10:c.41111A>T (TTN)	ENSP00000340554.6:p.Lys13704Met
ENST00000342992.10:c.60026A>T (TTN)	ENSP00000343764.6:p.Lys20009Met
ENST00000359218.9:c.40910A>T (TTN)	ENSP00000352154.5:p.Lys13637Met
ENST00000460472.6:c.40535A>T (TTN)	ENSP00000434586.1:p.Lys13512Met
ENST00000589042.5:c.67730A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys22577Met
ENST00000591111.5:c.62807A>T (TTN)	ENSP00000465570.1:p.Lys20936Met
ENST00000615779.4:c.62807A>T (TTN)	ENSP00000483597.1:p.Lys20936Met
NM_001256850.1:c.62807A>T (TTN)	NP_001243779.1:p.Lys20936Met
NM_001267550.2:c.67730A>T (TTN) MANE Select	NP_001254479.2:p.Lys22577Met
NM_003319.4:c.40535A>T (TTN)	NP_003310.4:p.Lys13512Met
NM_133378.4:c.60026A>T (TTN)	NP_596869.4:p.Lys20009Met
NM_133432.3:c.40910A>T (TTN)	NP_597676.3:p.Lys13637Met
NM_133437.4:c.41111A>T (TTN)	NP_597681.4:p.Lys13704Met
NR_038271.1:n.596+7851T>A (TTN-AS1)
NR_038272.1:n.2044-3272T>A (TTN-AS1)
XM_011511729.1:c.66827A>T (TTN)	XP_011510031.1:p.Lys22276Met
XM_011511730.1:c.40721A>T (TTN)	XP_011510032.1:p.Lys13574Met
XM_011511731.1:c.40580A>T (TTN)	XP_011510033.1:p.Lys13527Met
XM_017004819.1:c.66623A>T (TTN)	XP_016860308.1:p.Lys22208Met
XM_017004820.1:c.62021A>T (TTN)	XP_016860309.1:p.Lys20674Met
XM_017004821.1:c.62018A>T (TTN)	XP_016860310.1:p.Lys20673Met
XM_017004822.1:c.59060A>T (TTN)	XP_016860311.1:p.Lys19687Met
XM_017004823.1:c.40676A>T (TTN)	XP_016860312.1:p.Lys13559Met
XM_024453094.1:c.62171A>T (TTN)	XP_024308862.1:p.Lys20724Met
XM_024453095.1:c.62168A>T (TTN)	XP_024308863.1:p.Lys20723Met
XM_024453096.1:c.61601A>T (TTN)	XP_024308864.1:p.Lys20534Met
XM_024453097.1:c.58943A>T (TTN)	XP_024308865.1:p.Lys19648Met
XM_024453098.1:c.58862A>T (TTN)	XP_024308866.1:p.Lys19621Met
XM_024453099.1:c.40625A>T (TTN)	XP_024308867.1:p.Lys13542Met
XM_024453100.1:c.30479A>T (TTN)	XP_024308868.1:p.Lys10160Met