Canonical Allele Identifier: CA349479431

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455655T>A (hg19) ; chr2:g.178590928T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590928T>A , CM000664.2:g.178590928T>A	GRCh38
NC_000002.11:g.179455655T>A , CM000664.1:g.179455655T>A	GRCh37
NC_000002.10:g.179163901T>A	NCBI36
NG_011618.3:g.244875A>T , LRG_391:g.244875A>T
NG_051363.1:g.73102T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53093A>T (TTN)	ENSP00000343764.6:p.Lys17698Met
ENST00000342175.11:c.34178A>T (TTN)	ENSP00000340554.6:p.Lys11393Met
ENST00000359218.10:c.33977A>T (TTN)	ENSP00000352154.5:p.Lys11326Met
ENST00000342175.10:c.34178A>T (TTN)	ENSP00000340554.6:p.Lys11393Met
ENST00000342992.10:c.53093A>T (TTN)	ENSP00000343764.6:p.Lys17698Met
ENST00000359218.9:c.33977A>T (TTN)	ENSP00000352154.5:p.Lys11326Met
ENST00000460472.6:c.33602A>T (TTN)	ENSP00000434586.1:p.Lys11201Met
ENST00000589042.5:c.60797A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys20266Met
ENST00000591111.5:c.55874A>T (TTN)	ENSP00000465570.1:p.Lys18625Met
ENST00000615779.4:c.55874A>T (TTN)	ENSP00000483597.1:p.Lys18625Met
NM_001256850.1:c.55874A>T (TTN)	NP_001243779.1:p.Lys18625Met
NM_001267550.2:c.60797A>T (TTN) MANE Select	NP_001254479.2:p.Lys20266Met
NM_003319.4:c.33602A>T (TTN)	NP_003310.4:p.Lys11201Met
NM_133378.4:c.53093A>T (TTN)	NP_596869.4:p.Lys17698Met
NM_133432.3:c.33977A>T (TTN)	NP_597676.3:p.Lys11326Met
NM_133437.4:c.34178A>T (TTN)	NP_597681.4:p.Lys11393Met
NR_038271.1:n.597-6668T>A (TTN-AS1)
NR_038272.1:n.3189-211T>A (TTN-AS1)
XM_011511729.1:c.59894A>T (TTN)	XP_011510031.1:p.Lys19965Met
XM_011511730.1:c.33788A>T (TTN)	XP_011510032.1:p.Lys11263Met
XM_011511731.1:c.33647A>T (TTN)	XP_011510033.1:p.Lys11216Met
XM_017004819.1:c.59690A>T (TTN)	XP_016860308.1:p.Lys19897Met
XM_017004820.1:c.55088A>T (TTN)	XP_016860309.1:p.Lys18363Met
XM_017004821.1:c.55085A>T (TTN)	XP_016860310.1:p.Lys18362Met
XM_017004822.1:c.52127A>T (TTN)	XP_016860311.1:p.Lys17376Met
XM_017004823.1:c.33743A>T (TTN)	XP_016860312.1:p.Lys11248Met
XM_024453094.1:c.55238A>T (TTN)	XP_024308862.1:p.Lys18413Met
XM_024453095.1:c.55235A>T (TTN)	XP_024308863.1:p.Lys18412Met
XM_024453096.1:c.54668A>T (TTN)	XP_024308864.1:p.Lys18223Met
XM_024453097.1:c.52010A>T (TTN)	XP_024308865.1:p.Lys17337Met
XM_024453098.1:c.51929A>T (TTN)	XP_024308866.1:p.Lys17310Met
XM_024453099.1:c.33692A>T (TTN)	XP_024308867.1:p.Lys11231Met
XM_024453100.1:c.23546A>T (TTN)	XP_024308868.1:p.Lys7849Met