Canonical Allele Identifier: CA349642799

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178572847C>A , CM000664.2:g.178572847C>A	GRCh38
NC_000002.11:g.179437574C>A , CM000664.1:g.179437574C>A	GRCh37
NC_000002.10:g.179145820C>A	NCBI36
NG_011618.3:g.262956G>T , LRG_391:g.262956G>T
NG_051363.1:g.55021C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.73285G>T (TTN) MANE Select	NP_001254479.2:p.Glu24429Ter
ENST00000589042.5:c.73285G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu24429Ter
NM_001256850.1:c.68362G>T (TTN)	NP_001243779.1:p.Glu22788Ter
NM_003319.4:c.46090G>T (TTN)	NP_003310.4:p.Glu15364Ter
NM_133378.4:c.65581G>T (TTN)	NP_596869.4:p.Glu21861Ter
NM_133432.3:c.46465G>T (TTN)	NP_597676.3:p.Glu15489Ter
NM_133437.4:c.46666G>T (TTN)	NP_597681.4:p.Glu15556Ter
NR_038271.1:n.596+1398C>A (TTN-AS1)
NR_038272.1:n.2044-9725C>A (TTN-AS1)
ENST00000342175.10:c.46666G>T (TTN)	ENSP00000340554.6:p.Glu15556Ter
ENST00000342175.11:c.46666G>T (TTN)	ENSP00000340554.6:p.Glu15556Ter
ENST00000342992.10:c.65581G>T (TTN)	ENSP00000343764.6:p.Glu21861Ter
ENST00000342992.11:c.65581G>T (TTN)	ENSP00000343764.6:p.Glu21861Ter
ENST00000359218.10:c.46465G>T (TTN)	ENSP00000352154.5:p.Glu15489Ter
ENST00000359218.9:c.46465G>T (TTN)	ENSP00000352154.5:p.Glu15489Ter
ENST00000460472.6:c.46090G>T (TTN)	ENSP00000434586.1:p.Glu15364Ter
ENST00000591111.5:c.68362G>T (TTN)	ENSP00000465570.1:p.Glu22788Ter
ENST00000615779.4:c.68362G>T (TTN)	ENSP00000483597.1:p.Glu22788Ter
XM_011511729.1:c.72382G>T (TTN)	XP_011510031.1:p.Glu24128Ter
XM_011511730.1:c.46276G>T (TTN)	XP_011510032.1:p.Glu15426Ter
XM_011511731.1:c.46135G>T (TTN)	XP_011510033.1:p.Glu15379Ter
XM_017004819.1:c.72178G>T (TTN)	XP_016860308.1:p.Glu24060Ter
XM_017004820.1:c.67576G>T (TTN)	XP_016860309.1:p.Glu22526Ter
XM_017004821.1:c.67573G>T (TTN)	XP_016860310.1:p.Glu22525Ter
XM_017004822.1:c.64615G>T (TTN)	XP_016860311.1:p.Glu21539Ter
XM_017004823.1:c.46231G>T (TTN)	XP_016860312.1:p.Glu15411Ter
XM_024453094.1:c.67726G>T (TTN)	XP_024308862.1:p.Glu22576Ter
XM_024453095.1:c.67723G>T (TTN)	XP_024308863.1:p.Glu22575Ter
XM_024453096.1:c.67156G>T (TTN)	XP_024308864.1:p.Glu22386Ter
XM_024453097.1:c.64498G>T (TTN)	XP_024308865.1:p.Glu21500Ter
XM_024453098.1:c.64417G>T (TTN)	XP_024308866.1:p.Glu21473Ter
XM_024453099.1:c.46180G>T (TTN)	XP_024308867.1:p.Glu15394Ter
XM_024453100.1:c.36034G>T (TTN)	XP_024308868.1:p.Glu12012Ter