Canonical Allele Identifier: CA349658757

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439628A>T (hg19) ; chr2:g.178574901A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574901A>T , CM000664.2:g.178574901A>T	GRCh38
NC_000002.11:g.179439628A>T , CM000664.1:g.179439628A>T	GRCh37
NC_000002.10:g.179147874A>T	NCBI36
NG_011618.3:g.260902T>A , LRG_391:g.260902T>A
NG_051363.1:g.57075A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63527T>A (TTN)	ENSP00000343764.6:p.Val21176Glu
ENST00000342175.11:c.44612T>A (TTN)	ENSP00000340554.6:p.Val14871Glu
ENST00000359218.10:c.44411T>A (TTN)	ENSP00000352154.5:p.Val14804Glu
ENST00000342175.10:c.44612T>A (TTN)	ENSP00000340554.6:p.Val14871Glu
ENST00000342992.10:c.63527T>A (TTN)	ENSP00000343764.6:p.Val21176Glu
ENST00000359218.9:c.44411T>A (TTN)	ENSP00000352154.5:p.Val14804Glu
ENST00000460472.6:c.44036T>A (TTN)	ENSP00000434586.1:p.Val14679Glu
ENST00000589042.5:c.71231T>A (TTN) MANE Select	ENSP00000467141.1:p.Val23744Glu
ENST00000591111.5:c.66308T>A (TTN)	ENSP00000465570.1:p.Val22103Glu
ENST00000615779.4:c.66308T>A (TTN)	ENSP00000483597.1:p.Val22103Glu
NM_001256850.1:c.66308T>A (TTN)	NP_001243779.1:p.Val22103Glu
NM_001267550.2:c.71231T>A (TTN) MANE Select	NP_001254479.2:p.Val23744Glu
NM_003319.4:c.44036T>A (TTN)	NP_003310.4:p.Val14679Glu
NM_133378.4:c.63527T>A (TTN)	NP_596869.4:p.Val21176Glu
NM_133432.3:c.44411T>A (TTN)	NP_597676.3:p.Val14804Glu
NM_133437.4:c.44612T>A (TTN)	NP_597681.4:p.Val14871Glu
NR_038271.1:n.596+3452A>T (TTN-AS1)
NR_038272.1:n.2044-7671A>T (TTN-AS1)
XM_011511729.1:c.70328T>A (TTN)	XP_011510031.1:p.Val23443Glu
XM_011511730.1:c.44222T>A (TTN)	XP_011510032.1:p.Val14741Glu
XM_011511731.1:c.44081T>A (TTN)	XP_011510033.1:p.Val14694Glu
XM_017004819.1:c.70124T>A (TTN)	XP_016860308.1:p.Val23375Glu
XM_017004820.1:c.65522T>A (TTN)	XP_016860309.1:p.Val21841Glu
XM_017004821.1:c.65519T>A (TTN)	XP_016860310.1:p.Val21840Glu
XM_017004822.1:c.62561T>A (TTN)	XP_016860311.1:p.Val20854Glu
XM_017004823.1:c.44177T>A (TTN)	XP_016860312.1:p.Val14726Glu
XM_024453094.1:c.65672T>A (TTN)	XP_024308862.1:p.Val21891Glu
XM_024453095.1:c.65669T>A (TTN)	XP_024308863.1:p.Val21890Glu
XM_024453096.1:c.65102T>A (TTN)	XP_024308864.1:p.Val21701Glu
XM_024453097.1:c.62444T>A (TTN)	XP_024308865.1:p.Val20815Glu
XM_024453098.1:c.62363T>A (TTN)	XP_024308866.1:p.Val20788Glu
XM_024453099.1:c.44126T>A (TTN)	XP_024308867.1:p.Val14709Glu
XM_024453100.1:c.33980T>A (TTN)	XP_024308868.1:p.Val11327Glu