Canonical Allele Identifier: CA349500161

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457959T>A (hg19) ; chr2:g.178593232T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593232T>A , CM000664.2:g.178593232T>A	GRCh38
NC_000002.11:g.179457959T>A , CM000664.1:g.179457959T>A	GRCh37
NC_000002.10:g.179166205T>A	NCBI36
NG_011618.3:g.242571A>T , LRG_391:g.242571A>T
NG_051363.1:g.75406T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.51272A>T (TTN)	ENSP00000343764.6:p.Glu17091Val
ENST00000342175.11:c.32357A>T (TTN)	ENSP00000340554.6:p.Glu10786Val
ENST00000359218.10:c.32156A>T (TTN)	ENSP00000352154.5:p.Glu10719Val
ENST00000342175.10:c.32357A>T (TTN)	ENSP00000340554.6:p.Glu10786Val
ENST00000342992.10:c.51272A>T (TTN)	ENSP00000343764.6:p.Glu17091Val
ENST00000359218.9:c.32156A>T (TTN)	ENSP00000352154.5:p.Glu10719Val
ENST00000460472.6:c.31781A>T (TTN)	ENSP00000434586.1:p.Glu10594Val
ENST00000589042.5:c.58976A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu19659Val
ENST00000591111.5:c.54053A>T (TTN)	ENSP00000465570.1:p.Glu18018Val
ENST00000615779.4:c.54053A>T (TTN)	ENSP00000483597.1:p.Glu18018Val
NM_001256850.1:c.54053A>T (TTN)	NP_001243779.1:p.Glu18018Val
NM_001267550.2:c.58976A>T (TTN) MANE Select	NP_001254479.2:p.Glu19659Val
NM_003319.4:c.31781A>T (TTN)	NP_003310.4:p.Glu10594Val
NM_133378.4:c.51272A>T (TTN)	NP_596869.4:p.Glu17091Val
NM_133432.3:c.32156A>T (TTN)	NP_597676.3:p.Glu10719Val
NM_133437.4:c.32357A>T (TTN)	NP_597681.4:p.Glu10786Val
NR_038271.1:n.597-4364T>A (TTN-AS1)
NR_038272.1:n.3364+1918T>A (TTN-AS1)
XM_011511729.1:c.58073A>T (TTN)	XP_011510031.1:p.Glu19358Val
XM_011511730.1:c.31967A>T (TTN)	XP_011510032.1:p.Glu10656Val
XM_011511731.1:c.31826A>T (TTN)	XP_011510033.1:p.Glu10609Val
XM_017004819.1:c.57869A>T (TTN)	XP_016860308.1:p.Glu19290Val
XM_017004820.1:c.53267A>T (TTN)	XP_016860309.1:p.Glu17756Val
XM_017004821.1:c.53264A>T (TTN)	XP_016860310.1:p.Glu17755Val
XM_017004822.1:c.50306A>T (TTN)	XP_016860311.1:p.Glu16769Val
XM_017004823.1:c.31922A>T (TTN)	XP_016860312.1:p.Glu10641Val
XM_024453094.1:c.53417A>T (TTN)	XP_024308862.1:p.Glu17806Val
XM_024453095.1:c.53414A>T (TTN)	XP_024308863.1:p.Glu17805Val
XM_024453096.1:c.52847A>T (TTN)	XP_024308864.1:p.Glu17616Val
XM_024453097.1:c.50189A>T (TTN)	XP_024308865.1:p.Glu16730Val
XM_024453098.1:c.50108A>T (TTN)	XP_024308866.1:p.Glu16703Val
XM_024453099.1:c.31871A>T (TTN)	XP_024308867.1:p.Glu10624Val
XM_024453100.1:c.21725A>T (TTN)	XP_024308868.1:p.Glu7242Val