Canonical Allele Identifier: CA349613782

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434043C>A (hg19) ; chr2:g.178569316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569316C>A , CM000664.2:g.178569316C>A	GRCh38
NC_000002.11:g.179434043C>A , CM000664.1:g.179434043C>A	GRCh37
NC_000002.10:g.179142289C>A	NCBI36
NG_011618.3:g.266487G>T , LRG_391:g.266487G>T
NG_051363.1:g.51490C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69112G>T (TTN)	ENSP00000343764.6:p.Val23038Phe
ENST00000342175.11:c.50197G>T (TTN)	ENSP00000340554.6:p.Val16733Phe
ENST00000359218.10:c.49996G>T (TTN)	ENSP00000352154.5:p.Val16666Phe
ENST00000342175.10:c.50197G>T (TTN)	ENSP00000340554.6:p.Val16733Phe
ENST00000342992.10:c.69112G>T (TTN)	ENSP00000343764.6:p.Val23038Phe
ENST00000359218.9:c.49996G>T (TTN)	ENSP00000352154.5:p.Val16666Phe
ENST00000460472.6:c.49621G>T (TTN)	ENSP00000434586.1:p.Val16541Phe
ENST00000589042.5:c.76816G>T (TTN) MANE Select	ENSP00000467141.1:p.Val25606Phe
ENST00000591111.5:c.71893G>T (TTN)	ENSP00000465570.1:p.Val23965Phe
ENST00000615779.4:c.71893G>T (TTN)	ENSP00000483597.1:p.Val23965Phe
NM_001256850.1:c.71893G>T (TTN)	NP_001243779.1:p.Val23965Phe
NM_001267550.2:c.76816G>T (TTN) MANE Select	NP_001254479.2:p.Val25606Phe
NM_003319.4:c.49621G>T (TTN)	NP_003310.4:p.Val16541Phe
NM_133378.4:c.69112G>T (TTN)	NP_596869.4:p.Val23038Phe
NM_133432.3:c.49996G>T (TTN)	NP_597676.3:p.Val16666Phe
NM_133437.4:c.50197G>T (TTN)	NP_597681.4:p.Val16733Phe
NR_038271.1:n.447-1984C>A (TTN-AS1)
NR_038272.1:n.2044-13256C>A (TTN-AS1)
XM_011511729.1:c.75913G>T (TTN)	XP_011510031.1:p.Val25305Phe
XM_011511730.1:c.49807G>T (TTN)	XP_011510032.1:p.Val16603Phe
XM_011511731.1:c.49666G>T (TTN)	XP_011510033.1:p.Val16556Phe
XM_017004819.1:c.75709G>T (TTN)	XP_016860308.1:p.Val25237Phe
XM_017004820.1:c.71107G>T (TTN)	XP_016860309.1:p.Val23703Phe
XM_017004821.1:c.71104G>T (TTN)	XP_016860310.1:p.Val23702Phe
XM_017004822.1:c.68146G>T (TTN)	XP_016860311.1:p.Val22716Phe
XM_017004823.1:c.49762G>T (TTN)	XP_016860312.1:p.Val16588Phe
XM_024453094.1:c.71257G>T (TTN)	XP_024308862.1:p.Val23753Phe
XM_024453095.1:c.71254G>T (TTN)	XP_024308863.1:p.Val23752Phe
XM_024453096.1:c.70687G>T (TTN)	XP_024308864.1:p.Val23563Phe
XM_024453097.1:c.68029G>T (TTN)	XP_024308865.1:p.Val22677Phe
XM_024453098.1:c.67948G>T (TTN)	XP_024308866.1:p.Val22650Phe
XM_024453099.1:c.49711G>T (TTN)	XP_024308867.1:p.Val16571Phe
XM_024453100.1:c.39565G>T (TTN)	XP_024308868.1:p.Val13189Phe