Canonical Allele Identifier: CA349646027

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573444C>A , CM000664.2:g.178573444C>A	GRCh38
NC_000002.11:g.179438171C>A , CM000664.1:g.179438171C>A	GRCh37
NC_000002.10:g.179146417C>A	NCBI36
NG_011618.3:g.262359G>T , LRG_391:g.262359G>T
NG_051363.1:g.55618C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.72688G>T (TTN) MANE Select	NP_001254479.2:p.Glu24230Ter
ENST00000589042.5:c.72688G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu24230Ter
NM_001256850.1:c.67765G>T (TTN)	NP_001243779.1:p.Glu22589Ter
NM_003319.4:c.45493G>T (TTN)	NP_003310.4:p.Glu15165Ter
NM_133378.4:c.64984G>T (TTN)	NP_596869.4:p.Glu21662Ter
NM_133432.3:c.45868G>T (TTN)	NP_597676.3:p.Glu15290Ter
NM_133437.4:c.46069G>T (TTN)	NP_597681.4:p.Glu15357Ter
NR_038271.1:n.596+1995C>A (TTN-AS1)
NR_038272.1:n.2044-9128C>A (TTN-AS1)
ENST00000342175.10:c.46069G>T (TTN)	ENSP00000340554.6:p.Glu15357Ter
ENST00000342175.11:c.46069G>T (TTN)	ENSP00000340554.6:p.Glu15357Ter
ENST00000342992.10:c.64984G>T (TTN)	ENSP00000343764.6:p.Glu21662Ter
ENST00000342992.11:c.64984G>T (TTN)	ENSP00000343764.6:p.Glu21662Ter
ENST00000359218.10:c.45868G>T (TTN)	ENSP00000352154.5:p.Glu15290Ter
ENST00000359218.9:c.45868G>T (TTN)	ENSP00000352154.5:p.Glu15290Ter
ENST00000460472.6:c.45493G>T (TTN)	ENSP00000434586.1:p.Glu15165Ter
ENST00000591111.5:c.67765G>T (TTN)	ENSP00000465570.1:p.Glu22589Ter
ENST00000615779.4:c.67765G>T (TTN)	ENSP00000483597.1:p.Glu22589Ter
XM_011511729.1:c.71785G>T (TTN)	XP_011510031.1:p.Glu23929Ter
XM_011511730.1:c.45679G>T (TTN)	XP_011510032.1:p.Glu15227Ter
XM_011511731.1:c.45538G>T (TTN)	XP_011510033.1:p.Glu15180Ter
XM_017004819.1:c.71581G>T (TTN)	XP_016860308.1:p.Glu23861Ter
XM_017004820.1:c.66979G>T (TTN)	XP_016860309.1:p.Glu22327Ter
XM_017004821.1:c.66976G>T (TTN)	XP_016860310.1:p.Glu22326Ter
XM_017004822.1:c.64018G>T (TTN)	XP_016860311.1:p.Glu21340Ter
XM_017004823.1:c.45634G>T (TTN)	XP_016860312.1:p.Glu15212Ter
XM_024453094.1:c.67129G>T (TTN)	XP_024308862.1:p.Glu22377Ter
XM_024453095.1:c.67126G>T (TTN)	XP_024308863.1:p.Glu22376Ter
XM_024453096.1:c.66559G>T (TTN)	XP_024308864.1:p.Glu22187Ter
XM_024453097.1:c.63901G>T (TTN)	XP_024308865.1:p.Glu21301Ter
XM_024453098.1:c.63820G>T (TTN)	XP_024308866.1:p.Glu21274Ter
XM_024453099.1:c.45583G>T (TTN)	XP_024308867.1:p.Glu15195Ter
XM_024453100.1:c.35437G>T (TTN)	XP_024308868.1:p.Glu11813Ter