Canonical Allele Identifier: CA430101607

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178646501T>C , CM000664.2:g.178646501T>C	GRCh38
NC_000002.11:g.179511228T>C , CM000664.1:g.179511228T>C	GRCh37
NC_000002.10:g.179219473T>C	NCBI36
NG_011618.3:g.189302A>G , LRG_391:g.189302A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.40281A>G MANE Select	NP_001254479.2:p.Glu13427=
ENST00000589042.5:c.40281A>G MANE Select	ENSP00000467141.1:p.Glu13427=
NM_001256850.1:c.35375-471A>G	NP_001243779.1:n.35375-471A>G
NM_003319.4:c.13283-4184A>G	NP_003310.4:n.13283-4184A>G
NM_133378.4:c.32594-471A>G	NP_596869.4:n.32594-471A>G
NM_133432.3:c.13658-4184A>G	NP_597676.3:n.13658-4184A>G
NM_133437.4:c.13859-4184A>G	NP_597681.4:n.13859-4184A>G
ENST00000342175.10:c.13859-4184A>G	ENSP00000340554.6:n.13859-4184A>G
ENST00000342175.11:c.13859-4184A>G	ENSP00000340554.6:n.13859-4184A>G
ENST00000342992.10:c.32594-471A>G	ENSP00000343764.6:n.32594-471A>G
ENST00000342992.11:c.32594-471A>G	ENSP00000343764.6:n.32594-471A>G
ENST00000359218.10:c.13658-4184A>G	ENSP00000352154.5:n.13658-4184A>G
ENST00000359218.9:c.13658-4184A>G	ENSP00000352154.5:n.13658-4184A>G
ENST00000414766.5:c.2441-4184A>G	ENSP00000401501.1:n.2441-4184A>G
ENST00000426232.5:c.417-471A>G
ENST00000446966.1:c.798A>G	ENSP00000408004.1:p.Glu266=
ENST00000460472.6:c.13283-4184A>G	ENSP00000434586.1:n.13283-4184A>G
ENST00000591111.5:c.35375-471A>G	ENSP00000465570.1:n.35375-471A>G
ENST00000615779.4:c.35375-471A>G	ENSP00000483597.1:n.35375-471A>G
XM_011511729.1:c.39378A>G	XP_011510031.1:p.Glu13126=
XM_011511730.1:c.13469-4184A>G	XP_011510032.1:n.13469-4184A>G
XM_011511731.1:c.13328-4184A>G	XP_011510033.1:n.13328-4184A>G
XM_017004819.1:c.39174A>G	XP_016860308.1:p.Glu13058=
XM_017004820.1:c.34572A>G	XP_016860309.1:p.Glu11524=
XM_017004821.1:c.34569A>G	XP_016860310.1:p.Glu11523=
XM_017004822.1:c.31859-4184A>G	XP_016860311.1:n.31859-4184A>G
XM_017004823.1:c.13424-4184A>G	XP_016860312.1:n.13424-4184A>G
XM_024453094.1:c.34722A>G	XP_024308862.1:p.Glu11574=
XM_024453095.1:c.34719A>G	XP_024308863.1:p.Glu11573=
XM_024453096.1:c.34152A>G	XP_024308864.1:p.Glu11384=
XM_024453097.1:c.31691-4184A>G	XP_024308865.1:n.31691-4184A>G
XM_024453098.1:c.31610-4184A>G	XP_024308866.1:n.31610-4184A>G
XM_024453099.1:c.13424-4184A>G	XP_024308867.1:n.13424-4184A>G
XM_024453100.1:c.3030A>G	XP_024308868.1:p.Glu1010=