Canonical Allele Identifier: CA430257725

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439627T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574900T>G , CM000664.2:g.178574900T>G	GRCh38
NC_000002.11:g.179439627T>G , CM000664.1:g.179439627T>G	GRCh37
NC_000002.10:g.179147873T>G	NCBI36
NG_011618.3:g.260903A>C , LRG_391:g.260903A>C
NG_051363.1:g.57074T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63528A>C (TTN)	ENSP00000343764.6:p.Val21176=
ENST00000342175.11:c.44613A>C (TTN)	ENSP00000340554.6:p.Val14871=
ENST00000359218.10:c.44412A>C (TTN)	ENSP00000352154.5:p.Val14804=
ENST00000342175.10:c.44613A>C (TTN)	ENSP00000340554.6:p.Val14871=
ENST00000342992.10:c.63528A>C (TTN)	ENSP00000343764.6:p.Val21176=
ENST00000359218.9:c.44412A>C (TTN)	ENSP00000352154.5:p.Val14804=
ENST00000460472.6:c.44037A>C (TTN)	ENSP00000434586.1:p.Val14679=
ENST00000589042.5:c.71232A>C (TTN) MANE Select	ENSP00000467141.1:p.Val23744=
ENST00000591111.5:c.66309A>C (TTN)	ENSP00000465570.1:p.Val22103=
ENST00000615779.4:c.66309A>C (TTN)	ENSP00000483597.1:p.Val22103=
NM_001256850.1:c.66309A>C (TTN)	NP_001243779.1:p.Val22103=
NM_001267550.2:c.71232A>C (TTN) MANE Select	NP_001254479.2:p.Val23744=
NM_003319.4:c.44037A>C (TTN)	NP_003310.4:p.Val14679=
NM_133378.4:c.63528A>C (TTN)	NP_596869.4:p.Val21176=
NM_133432.3:c.44412A>C (TTN)	NP_597676.3:p.Val14804=
NM_133437.4:c.44613A>C (TTN)	NP_597681.4:p.Val14871=
NR_038271.1:n.596+3451T>G (TTN-AS1)
NR_038272.1:n.2044-7672T>G (TTN-AS1)
XM_011511729.1:c.70329A>C (TTN)	XP_011510031.1:p.Val23443=
XM_011511730.1:c.44223A>C (TTN)	XP_011510032.1:p.Val14741=
XM_011511731.1:c.44082A>C (TTN)	XP_011510033.1:p.Val14694=
XM_017004819.1:c.70125A>C (TTN)	XP_016860308.1:p.Val23375=
XM_017004820.1:c.65523A>C (TTN)	XP_016860309.1:p.Val21841=
XM_017004821.1:c.65520A>C (TTN)	XP_016860310.1:p.Val21840=
XM_017004822.1:c.62562A>C (TTN)	XP_016860311.1:p.Val20854=
XM_017004823.1:c.44178A>C (TTN)	XP_016860312.1:p.Val14726=
XM_024453094.1:c.65673A>C (TTN)	XP_024308862.1:p.Val21891=
XM_024453095.1:c.65670A>C (TTN)	XP_024308863.1:p.Val21890=
XM_024453096.1:c.65103A>C (TTN)	XP_024308864.1:p.Val21701=
XM_024453097.1:c.62445A>C (TTN)	XP_024308865.1:p.Val20815=
XM_024453098.1:c.62364A>C (TTN)	XP_024308866.1:p.Val20788=
XM_024453099.1:c.44127A>C (TTN)	XP_024308867.1:p.Val14709=
XM_024453100.1:c.33981A>C (TTN)	XP_024308868.1:p.Val11327=