Canonical Allele Identifier: CA1996732

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178651745G>A , CM000664.2:g.178651745G>A	GRCh38
NC_000002.11:g.179516472G>A , CM000664.1:g.179516472G>A	GRCh37
NC_000002.10:g.179224717G>A	NCBI36
NG_011618.3:g.184058C>T , LRG_391:g.184058C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.39384C>T MANE Select	NP_001254479.2:p.Thr13128=
ENST00000589042.5:c.39384C>T MANE Select	ENSP00000467141.1:p.Thr13128=
NM_001256850.1:c.34863C>T	NP_001243779.1:p.Thr11621=
NM_003319.4:c.13283-9428C>T	NP_003310.4:n.13283-9428C>T
NM_133378.4:c.32082C>T	NP_596869.4:p.Thr10694=
NM_133432.3:c.13658-9428C>T	NP_597676.3:n.13658-9428C>T
NM_133437.4:c.13859-9428C>T	NP_597681.4:n.13859-9428C>T
ENST00000342175.10:c.13859-9428C>T	ENSP00000340554.6:n.13859-9428C>T
ENST00000342175.11:c.13859-9428C>T	ENSP00000340554.6:n.13859-9428C>T
ENST00000342992.10:c.32082C>T	ENSP00000343764.6:p.Thr10694=
ENST00000342992.11:c.32082C>T	ENSP00000343764.6:p.Thr10694=
ENST00000359218.10:c.13658-9428C>T	ENSP00000352154.5:n.13658-9428C>T
ENST00000359218.9:c.13658-9428C>T	ENSP00000352154.5:n.13658-9428C>T
ENST00000414766.5:c.2441-9428C>T	ENSP00000401501.1:n.2441-9428C>T
ENST00000460472.6:c.13283-9428C>T	ENSP00000434586.1:n.13283-9428C>T
ENST00000591111.5:c.34863C>T	ENSP00000465570.1:p.Thr11621=
ENST00000615779.4:c.34863C>T	ENSP00000483597.1:p.Thr11621=
XM_011511729.1:c.38481C>T	XP_011510031.1:p.Thr12827=
XM_011511730.1:c.13469-9428C>T	XP_011510032.1:n.13469-9428C>T
XM_011511731.1:c.13328-9428C>T	XP_011510033.1:n.13328-9428C>T
XM_017004819.1:c.38277C>T	XP_016860308.1:p.Thr12759=
XM_017004820.1:c.33675C>T	XP_016860309.1:p.Thr11225=
XM_017004821.1:c.33672C>T	XP_016860310.1:p.Thr11224=
XM_017004822.1:c.31859-9428C>T	XP_016860311.1:n.31859-9428C>T
XM_017004823.1:c.13424-9428C>T	XP_016860312.1:n.13424-9428C>T
XM_024453094.1:c.33825C>T	XP_024308862.1:p.Thr11275=
XM_024453095.1:c.33822C>T	XP_024308863.1:p.Thr11274=
XM_024453096.1:c.33255C>T	XP_024308864.1:p.Thr11085=
XM_024453097.1:c.31691-9428C>T	XP_024308865.1:n.31691-9428C>T
XM_024453098.1:c.31610-9428C>T	XP_024308866.1:n.31610-9428C>T
XM_024453099.1:c.13424-9428C>T	XP_024308867.1:n.13424-9428C>T
XM_024453100.1:c.2133C>T	XP_024308868.1:p.Thr711=