Canonical Allele Identifier: CA349545201

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179467059T>G (hg19) ; chr2:g.178602332T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602332T>G , CM000664.2:g.178602332T>G	GRCh38
NC_000002.11:g.179467059T>G , CM000664.1:g.179467059T>G	GRCh37
NC_000002.10:g.179175304T>G	NCBI36
NG_011618.3:g.233471A>C , LRG_391:g.233471A>C
NG_051363.1:g.84506T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47366A>C (TTN)	ENSP00000343764.6:p.Glu15789Ala
ENST00000342175.11:c.28451A>C (TTN)	ENSP00000340554.6:p.Glu9484Ala
ENST00000359218.10:c.28250A>C (TTN)	ENSP00000352154.5:p.Glu9417Ala
ENST00000342175.10:c.28451A>C (TTN)	ENSP00000340554.6:p.Glu9484Ala
ENST00000342992.10:c.47366A>C (TTN)	ENSP00000343764.6:p.Glu15789Ala
ENST00000359218.9:c.28250A>C (TTN)	ENSP00000352154.5:p.Glu9417Ala
ENST00000460472.6:c.27875A>C (TTN)	ENSP00000434586.1:p.Glu9292Ala
ENST00000589042.5:c.55070A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu18357Ala
ENST00000591111.5:c.50147A>C (TTN)	ENSP00000465570.1:p.Glu16716Ala
ENST00000615779.4:c.50147A>C (TTN)	ENSP00000483597.1:p.Glu16716Ala
NM_001256850.1:c.50147A>C (TTN)	NP_001243779.1:p.Glu16716Ala
NM_001267550.2:c.55070A>C (TTN) MANE Select	NP_001254479.2:p.Glu18357Ala
NM_003319.4:c.27875A>C (TTN)	NP_003310.4:p.Glu9292Ala
NM_133378.4:c.47366A>C (TTN)	NP_596869.4:p.Glu15789Ala
NM_133432.3:c.28250A>C (TTN)	NP_597676.3:p.Glu9417Ala
NM_133437.4:c.28451A>C (TTN)	NP_597681.4:p.Glu9484Ala
NR_038271.1:n.682+4651T>G (TTN-AS1)
NR_038272.1:n.3917+1665T>G (TTN-AS1)
XM_011511729.1:c.54167A>C (TTN)	XP_011510031.1:p.Glu18056Ala
XM_011511730.1:c.28061A>C (TTN)	XP_011510032.1:p.Glu9354Ala
XM_011511731.1:c.27920A>C (TTN)	XP_011510033.1:p.Glu9307Ala
XM_017004819.1:c.53963A>C (TTN)	XP_016860308.1:p.Glu17988Ala
XM_017004820.1:c.49361A>C (TTN)	XP_016860309.1:p.Glu16454Ala
XM_017004821.1:c.49358A>C (TTN)	XP_016860310.1:p.Glu16453Ala
XM_017004822.1:c.46400A>C (TTN)	XP_016860311.1:p.Glu15467Ala
XM_017004823.1:c.28016A>C (TTN)	XP_016860312.1:p.Glu9339Ala
XM_024453094.1:c.49511A>C (TTN)	XP_024308862.1:p.Glu16504Ala
XM_024453095.1:c.49508A>C (TTN)	XP_024308863.1:p.Glu16503Ala
XM_024453096.1:c.48941A>C (TTN)	XP_024308864.1:p.Glu16314Ala
XM_024453097.1:c.46283A>C (TTN)	XP_024308865.1:p.Glu15428Ala
XM_024453098.1:c.46202A>C (TTN)	XP_024308866.1:p.Glu15401Ala
XM_024453099.1:c.27965A>C (TTN)	XP_024308867.1:p.Glu9322Ala
XM_024453100.1:c.17819A>C (TTN)	XP_024308868.1:p.Glu5940Ala