Canonical Allele Identifier: CA1996966

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178652909A>T , CM000664.2:g.178652909A>T	GRCh38
NC_000002.11:g.179517636A>T , CM000664.1:g.179517636A>T	GRCh37
NC_000002.10:g.179225881A>T	NCBI36
NG_011618.3:g.182894T>A , LRG_391:g.182894T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.38898T>A MANE Select	NP_001254479.2:p.Val12966=
ENST00000589042.5:c.38898T>A MANE Select	ENSP00000467141.1:p.Val12966=
NM_001256850.1:c.34523-368T>A	NP_001243779.1:n.34523-368T>A
NM_003319.4:c.13283-10592T>A	NP_003310.4:n.13283-10592T>A
NM_133378.4:c.31742-368T>A	NP_596869.4:n.31742-368T>A
NM_133432.3:c.13658-10592T>A	NP_597676.3:n.13658-10592T>A
NM_133437.4:c.13859-10592T>A	NP_597681.4:n.13859-10592T>A
ENST00000342175.10:c.13859-10592T>A	ENSP00000340554.6:n.13859-10592T>A
ENST00000342175.11:c.13859-10592T>A	ENSP00000340554.6:n.13859-10592T>A
ENST00000342992.10:c.31742-368T>A	ENSP00000343764.6:n.31742-368T>A
ENST00000342992.11:c.31742-368T>A	ENSP00000343764.6:n.31742-368T>A
ENST00000359218.10:c.13658-10592T>A	ENSP00000352154.5:n.13658-10592T>A
ENST00000359218.9:c.13658-10592T>A	ENSP00000352154.5:n.13658-10592T>A
ENST00000414766.5:c.2441-10592T>A	ENSP00000401501.1:n.2441-10592T>A
ENST00000460472.6:c.13283-10592T>A	ENSP00000434586.1:n.13283-10592T>A
ENST00000591111.5:c.34523-368T>A	ENSP00000465570.1:n.34523-368T>A
ENST00000615779.4:c.34523-368T>A	ENSP00000483597.1:n.34523-368T>A
XM_011511729.1:c.37995T>A	XP_011510031.1:p.Val12665=
XM_011511730.1:c.13469-10592T>A	XP_011510032.1:n.13469-10592T>A
XM_011511731.1:c.13328-10592T>A	XP_011510033.1:n.13328-10592T>A
XM_017004819.1:c.37791T>A	XP_016860308.1:p.Val12597=
XM_017004820.1:c.33189T>A	XP_016860309.1:p.Val11063=
XM_017004821.1:c.33186T>A	XP_016860310.1:p.Val11062=
XM_017004822.1:c.31859-10592T>A	XP_016860311.1:n.31859-10592T>A
XM_017004823.1:c.13424-10592T>A	XP_016860312.1:n.13424-10592T>A
XM_024453094.1:c.33569-562T>A	XP_024308862.1:n.33569-562T>A
XM_024453095.1:c.33566-562T>A	XP_024308863.1:n.33566-562T>A
XM_024453096.1:c.32999-562T>A	XP_024308864.1:n.32999-562T>A
XM_024453097.1:c.31691-10592T>A	XP_024308865.1:n.31691-10592T>A
XM_024453098.1:c.31610-10592T>A	XP_024308866.1:n.31610-10592T>A
XM_024453099.1:c.13424-10592T>A	XP_024308867.1:n.13424-10592T>A
XM_024453100.1:c.1647T>A	XP_024308868.1:p.Val549=