Canonical Allele Identifier: CA430278835

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178678144C>T , CM000664.2:g.178678144C>T	GRCh38
NC_000002.11:g.179542871C>T , CM000664.1:g.179542871C>T	GRCh37
NC_000002.10:g.179251116C>T	NCBI36
NG_011618.3:g.157659G>A , LRG_391:g.157659G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.33975G>A MANE Select	NP_001254479.2:p.Val11325=
ENST00000589042.5:c.33975G>A MANE Select	ENSP00000467141.1:p.Val11325=
NM_001256850.1:c.33024G>A	NP_001243779.1:p.Val11008=
NM_003319.4:c.13283-35827G>A	NP_003310.4:n.13283-35827G>A
NM_133378.4:c.30243G>A	NP_596869.4:p.Val10081=
NM_133432.3:c.13658-35827G>A	NP_597676.3:n.13658-35827G>A
NM_133437.4:c.13859-35827G>A	NP_597681.4:n.13859-35827G>A
ENST00000342175.10:c.13859-35827G>A	ENSP00000340554.6:n.13859-35827G>A
ENST00000342175.11:c.13859-35827G>A	ENSP00000340554.6:n.13859-35827G>A
ENST00000342992.10:c.30243G>A	ENSP00000343764.6:p.Val10081=
ENST00000342992.11:c.30243G>A	ENSP00000343764.6:p.Val10081=
ENST00000359218.10:c.13658-35827G>A	ENSP00000352154.5:n.13658-35827G>A
ENST00000359218.9:c.13658-35827G>A	ENSP00000352154.5:n.13658-35827G>A
ENST00000414766.5:c.2247G>A	ENSP00000401501.1:p.Val749=
ENST00000460472.6:c.13283-35827G>A	ENSP00000434586.1:n.13283-35827G>A
ENST00000591111.5:c.33024G>A	ENSP00000465570.1:p.Val11008=
ENST00000615779.4:c.33024G>A	ENSP00000483597.1:p.Val11008=
XM_011511729.1:c.33072G>A	XP_011510031.1:p.Val11024=
XM_011511730.1:c.13469-35827G>A	XP_011510032.1:n.13469-35827G>A
XM_011511731.1:c.13328-35827G>A	XP_011510033.1:n.13328-35827G>A
XM_017004819.1:c.33027G>A	XP_016860308.1:p.Val11009=
XM_017004820.1:c.30246G>A	XP_016860309.1:p.Val10082=
XM_017004821.1:c.30243G>A	XP_016860310.1:p.Val10081=
XM_017004822.1:c.31665G>A	XP_016860311.1:p.Val10555=
XM_017004823.1:c.13424-35827G>A	XP_016860312.1:n.13424-35827G>A
XM_024453094.1:c.33027G>A	XP_024308862.1:p.Val11009=
XM_024453095.1:c.33027G>A	XP_024308863.1:p.Val11009=
XM_024453096.1:c.32457G>A	XP_024308864.1:p.Val10819=
XM_024453097.1:c.31497G>A	XP_024308865.1:p.Val10499=
XM_024453098.1:c.31416G>A	XP_024308866.1:p.Val10472=
XM_024453099.1:c.13424-35827G>A	XP_024308867.1:n.13424-35827G>A