Canonical Allele Identifier: CA349517411

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178672073T>A , CM000664.2:g.178672073T>A	GRCh38
NC_000002.11:g.179536800T>A , CM000664.1:g.179536800T>A	GRCh37
NC_000002.10:g.179245045T>A	NCBI36
NG_011618.3:g.163730A>T , LRG_391:g.163730A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.35125A>T MANE Select	NP_001254479.2:p.Arg11709Ter
ENST00000589042.5:c.35125A>T MANE Select	ENSP00000467141.1:p.Arg11709Ter
NM_001256850.1:c.34003A>T	NP_001243779.1:p.Arg11335Ter
NM_003319.4:c.13283-29756A>T	NP_003310.4:n.13283-29756A>T
NM_133378.4:c.31222A>T	NP_596869.4:p.Arg10408Ter
NM_133432.3:c.13658-29756A>T	NP_597676.3:n.13658-29756A>T
NM_133437.4:c.13859-29756A>T	NP_597681.4:n.13859-29756A>T
ENST00000342175.10:c.13859-29756A>T	ENSP00000340554.6:n.13859-29756A>T
ENST00000342175.11:c.13859-29756A>T	ENSP00000340554.6:n.13859-29756A>T
ENST00000342992.10:c.31222A>T	ENSP00000343764.6:p.Arg10408Ter
ENST00000342992.11:c.31222A>T	ENSP00000343764.6:p.Arg10408Ter
ENST00000359218.10:c.13658-29756A>T	ENSP00000352154.5:n.13658-29756A>T
ENST00000359218.9:c.13658-29756A>T	ENSP00000352154.5:n.13658-29756A>T
ENST00000414766.5:c.2440+1560A>T	ENSP00000401501.1:n.2440+1560A>T
ENST00000448510.2:c.207A>T
ENST00000460472.6:c.13283-29756A>T	ENSP00000434586.1:n.13283-29756A>T
ENST00000591111.5:c.34003A>T	ENSP00000465570.1:p.Arg11335Ter
ENST00000615779.4:c.34003A>T	ENSP00000483597.1:p.Arg11335Ter
XM_011511729.1:c.34222A>T	XP_011510031.1:p.Arg11408Ter
XM_011511730.1:c.13469-29756A>T	XP_011510032.1:n.13469-29756A>T
XM_011511731.1:c.13328-29756A>T	XP_011510033.1:n.13328-29756A>T
XM_017004819.1:c.34177A>T	XP_016860308.1:p.Arg11393Ter
XM_017004820.1:c.31225A>T	XP_016860309.1:p.Arg10409Ter
XM_017004821.1:c.31222A>T	XP_016860310.1:p.Arg10408Ter
XM_017004822.1:c.31858+1560A>T	XP_016860311.1:n.31858+1560A>T
XM_017004823.1:c.13424-29756A>T	XP_016860312.1:n.13424-29756A>T
XM_024453094.1:c.33220+1560A>T	XP_024308862.1:n.33220+1560A>T
XM_024453095.1:c.33295+1560A>T	XP_024308863.1:n.33295+1560A>T
XM_024453096.1:c.32650+1560A>T	XP_024308864.1:n.32650+1560A>T
XM_024453097.1:c.31690+1560A>T	XP_024308865.1:n.31690+1560A>T
XM_024453098.1:c.31609+1560A>T	XP_024308866.1:n.31609+1560A>T
XM_024453099.1:c.13424-29756A>T	XP_024308867.1:n.13424-29756A>T