Canonical Allele Identifier: CA349658755

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63527T>C (TTN)	ENSP00000343764.6:p.Val21176Ala
ENST00000342175.11:c.44612T>C (TTN)	ENSP00000340554.6:p.Val14871Ala
ENST00000359218.10:c.44411T>C (TTN)	ENSP00000352154.5:p.Val14804Ala
ENST00000342175.10:c.44612T>C (TTN)	ENSP00000340554.6:p.Val14871Ala
ENST00000342992.10:c.63527T>C (TTN)	ENSP00000343764.6:p.Val21176Ala
ENST00000359218.9:c.44411T>C (TTN)	ENSP00000352154.5:p.Val14804Ala
ENST00000460472.6:c.44036T>C (TTN)	ENSP00000434586.1:p.Val14679Ala
ENST00000589042.5:c.71231T>C (TTN) MANE Select	ENSP00000467141.1:p.Val23744Ala
ENST00000591111.5:c.66308T>C (TTN)	ENSP00000465570.1:p.Val22103Ala
ENST00000615779.4:c.66308T>C (TTN)	ENSP00000483597.1:p.Val22103Ala
NM_001256850.1:c.66308T>C (TTN)	NP_001243779.1:p.Val22103Ala
NM_001267550.2:c.71231T>C (TTN) MANE Select	NP_001254479.2:p.Val23744Ala
NM_003319.4:c.44036T>C (TTN)	NP_003310.4:p.Val14679Ala
NM_133378.4:c.63527T>C (TTN)	NP_596869.4:p.Val21176Ala
NM_133432.3:c.44411T>C (TTN)	NP_597676.3:p.Val14804Ala
NM_133437.4:c.44612T>C (TTN)	NP_597681.4:p.Val14871Ala
NR_038271.1:n.596+3452A>G (TTN-AS1)
NR_038272.1:n.2044-7671A>G (TTN-AS1)
XM_011511729.1:c.70328T>C (TTN)	XP_011510031.1:p.Val23443Ala
XM_011511730.1:c.44222T>C (TTN)	XP_011510032.1:p.Val14741Ala
XM_011511731.1:c.44081T>C (TTN)	XP_011510033.1:p.Val14694Ala
XM_017004819.1:c.70124T>C (TTN)	XP_016860308.1:p.Val23375Ala
XM_017004820.1:c.65522T>C (TTN)	XP_016860309.1:p.Val21841Ala
XM_017004821.1:c.65519T>C (TTN)	XP_016860310.1:p.Val21840Ala
XM_017004822.1:c.62561T>C (TTN)	XP_016860311.1:p.Val20854Ala
XM_017004823.1:c.44177T>C (TTN)	XP_016860312.1:p.Val14726Ala
XM_024453094.1:c.65672T>C (TTN)	XP_024308862.1:p.Val21891Ala
XM_024453095.1:c.65669T>C (TTN)	XP_024308863.1:p.Val21890Ala
XM_024453096.1:c.65102T>C (TTN)	XP_024308864.1:p.Val21701Ala
XM_024453097.1:c.62444T>C (TTN)	XP_024308865.1:p.Val20815Ala
XM_024453098.1:c.62363T>C (TTN)	XP_024308866.1:p.Val20788Ala
XM_024453099.1:c.44126T>C (TTN)	XP_024308867.1:p.Val14709Ala
XM_024453100.1:c.33980T>C (TTN)	XP_024308868.1:p.Val11327Ala