Canonical Allele Identifier: CA349546234

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179467164A>G (hg19) ; chr2:g.178602437A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602437A>G , CM000664.2:g.178602437A>G	GRCh38
NC_000002.11:g.179467164A>G , CM000664.1:g.179467164A>G	GRCh37
NC_000002.10:g.179175409A>G	NCBI36
NG_011618.3:g.233366T>C , LRG_391:g.233366T>C
NG_051363.1:g.84611A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47261T>C (TTN)	ENSP00000343764.6:p.Val15754Ala
ENST00000342175.11:c.28346T>C (TTN)	ENSP00000340554.6:p.Val9449Ala
ENST00000359218.10:c.28145T>C (TTN)	ENSP00000352154.5:p.Val9382Ala
ENST00000342175.10:c.28346T>C (TTN)	ENSP00000340554.6:p.Val9449Ala
ENST00000342992.10:c.47261T>C (TTN)	ENSP00000343764.6:p.Val15754Ala
ENST00000359218.9:c.28145T>C (TTN)	ENSP00000352154.5:p.Val9382Ala
ENST00000460472.6:c.27770T>C (TTN)	ENSP00000434586.1:p.Val9257Ala
ENST00000589042.5:c.54965T>C (TTN) MANE Select	ENSP00000467141.1:p.Val18322Ala
ENST00000591111.5:c.50042T>C (TTN)	ENSP00000465570.1:p.Val16681Ala
ENST00000615779.4:c.50042T>C (TTN)	ENSP00000483597.1:p.Val16681Ala
NM_001256850.1:c.50042T>C (TTN)	NP_001243779.1:p.Val16681Ala
NM_001267550.2:c.54965T>C (TTN) MANE Select	NP_001254479.2:p.Val18322Ala
NM_003319.4:c.27770T>C (TTN)	NP_003310.4:p.Val9257Ala
NM_133378.4:c.47261T>C (TTN)	NP_596869.4:p.Val15754Ala
NM_133432.3:c.28145T>C (TTN)	NP_597676.3:p.Val9382Ala
NM_133437.4:c.28346T>C (TTN)	NP_597681.4:p.Val9449Ala
NR_038271.1:n.682+4756A>G (TTN-AS1)
NR_038272.1:n.3917+1770A>G (TTN-AS1)
XM_011511729.1:c.54062T>C (TTN)	XP_011510031.1:p.Val18021Ala
XM_011511730.1:c.27956T>C (TTN)	XP_011510032.1:p.Val9319Ala
XM_011511731.1:c.27815T>C (TTN)	XP_011510033.1:p.Val9272Ala
XM_017004819.1:c.53858T>C (TTN)	XP_016860308.1:p.Val17953Ala
XM_017004820.1:c.49256T>C (TTN)	XP_016860309.1:p.Val16419Ala
XM_017004821.1:c.49253T>C (TTN)	XP_016860310.1:p.Val16418Ala
XM_017004822.1:c.46295T>C (TTN)	XP_016860311.1:p.Val15432Ala
XM_017004823.1:c.27911T>C (TTN)	XP_016860312.1:p.Val9304Ala
XM_024453094.1:c.49406T>C (TTN)	XP_024308862.1:p.Val16469Ala
XM_024453095.1:c.49403T>C (TTN)	XP_024308863.1:p.Val16468Ala
XM_024453096.1:c.48836T>C (TTN)	XP_024308864.1:p.Val16279Ala
XM_024453097.1:c.46178T>C (TTN)	XP_024308865.1:p.Val15393Ala
XM_024453098.1:c.46097T>C (TTN)	XP_024308866.1:p.Val15366Ala
XM_024453099.1:c.27860T>C (TTN)	XP_024308867.1:p.Val9287Ala
XM_024453100.1:c.17714T>C (TTN)	XP_024308868.1:p.Val5905Ala