Canonical Allele Identifier: CA349480215

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455757T>G (hg19) ; chr2:g.178591030T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591030T>G , CM000664.2:g.178591030T>G	GRCh38
NC_000002.11:g.179455757T>G , CM000664.1:g.179455757T>G	GRCh37
NC_000002.10:g.179164003T>G	NCBI36
NG_011618.3:g.244773A>C , LRG_391:g.244773A>C
NG_051363.1:g.73204T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52991A>C (TTN)	ENSP00000343764.6:p.Lys17664Thr
ENST00000342175.11:c.34076A>C (TTN)	ENSP00000340554.6:p.Lys11359Thr
ENST00000359218.10:c.33875A>C (TTN)	ENSP00000352154.5:p.Lys11292Thr
ENST00000342175.10:c.34076A>C (TTN)	ENSP00000340554.6:p.Lys11359Thr
ENST00000342992.10:c.52991A>C (TTN)	ENSP00000343764.6:p.Lys17664Thr
ENST00000359218.9:c.33875A>C (TTN)	ENSP00000352154.5:p.Lys11292Thr
ENST00000460472.6:c.33500A>C (TTN)	ENSP00000434586.1:p.Lys11167Thr
ENST00000589042.5:c.60695A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys20232Thr
ENST00000591111.5:c.55772A>C (TTN)	ENSP00000465570.1:p.Lys18591Thr
ENST00000615779.4:c.55772A>C (TTN)	ENSP00000483597.1:p.Lys18591Thr
NM_001256850.1:c.55772A>C (TTN)	NP_001243779.1:p.Lys18591Thr
NM_001267550.2:c.60695A>C (TTN) MANE Select	NP_001254479.2:p.Lys20232Thr
NM_003319.4:c.33500A>C (TTN)	NP_003310.4:p.Lys11167Thr
NM_133378.4:c.52991A>C (TTN)	NP_596869.4:p.Lys17664Thr
NM_133432.3:c.33875A>C (TTN)	NP_597676.3:p.Lys11292Thr
NM_133437.4:c.34076A>C (TTN)	NP_597681.4:p.Lys11359Thr
NR_038271.1:n.597-6566T>G (TTN-AS1)
NR_038272.1:n.3189-109T>G (TTN-AS1)
XM_011511729.1:c.59792A>C (TTN)	XP_011510031.1:p.Lys19931Thr
XM_011511730.1:c.33686A>C (TTN)	XP_011510032.1:p.Lys11229Thr
XM_011511731.1:c.33545A>C (TTN)	XP_011510033.1:p.Lys11182Thr
XM_017004819.1:c.59588A>C (TTN)	XP_016860308.1:p.Lys19863Thr
XM_017004820.1:c.54986A>C (TTN)	XP_016860309.1:p.Lys18329Thr
XM_017004821.1:c.54983A>C (TTN)	XP_016860310.1:p.Lys18328Thr
XM_017004822.1:c.52025A>C (TTN)	XP_016860311.1:p.Lys17342Thr
XM_017004823.1:c.33641A>C (TTN)	XP_016860312.1:p.Lys11214Thr
XM_024453094.1:c.55136A>C (TTN)	XP_024308862.1:p.Lys18379Thr
XM_024453095.1:c.55133A>C (TTN)	XP_024308863.1:p.Lys18378Thr
XM_024453096.1:c.54566A>C (TTN)	XP_024308864.1:p.Lys18189Thr
XM_024453097.1:c.51908A>C (TTN)	XP_024308865.1:p.Lys17303Thr
XM_024453098.1:c.51827A>C (TTN)	XP_024308866.1:p.Lys17276Thr
XM_024453099.1:c.33590A>C (TTN)	XP_024308867.1:p.Lys11197Thr
XM_024453100.1:c.23444A>C (TTN)	XP_024308868.1:p.Lys7815Thr