Canonical Allele Identifier: CA283510

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47150
• ClinVar RCV Id: RCV000040420 ; RCV000254300 ; RCV000284184 ; RCV000308595 ; RCV000339177 ; RCV000363322 ; RCV000399397 ; RCV000465101
• dbSNP Id: rs367622770
• ExAC: 2:179457527 C / T
• gnomAD v2: 2-179457527-C-T
• gnomAD v3: 2-178592800-C-T
• gnomAD v4: 2-178592800-C-T
• MyVariant Identifiers: chr2:g.179457527C>T (hg19) ; chr2:g.178592800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592800C>T , CM000664.2:g.178592800C>T	GRCh38
NC_000002.11:g.179457527C>T , CM000664.1:g.179457527C>T	GRCh37
NC_000002.10:g.179165773C>T	NCBI36
NG_011618.3:g.243003G>A , LRG_391:g.243003G>A
NG_051363.1:g.74974C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.51615G>A (TTN)	ENSP00000343764.6:p.Glu17205=
ENST00000342175.11:c.32700G>A (TTN)	ENSP00000340554.6:p.Glu10900=
ENST00000359218.10:c.32499G>A (TTN)	ENSP00000352154.5:p.Glu10833=
ENST00000342175.10:c.32700G>A (TTN)	ENSP00000340554.6:p.Glu10900=
ENST00000342992.10:c.51615G>A (TTN)	ENSP00000343764.6:p.Glu17205=
ENST00000359218.9:c.32499G>A (TTN)	ENSP00000352154.5:p.Glu10833=
ENST00000460472.6:c.32124G>A (TTN)	ENSP00000434586.1:p.Glu10708=
ENST00000589042.5:c.59319G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu19773=
ENST00000591111.5:c.54396G>A (TTN)	ENSP00000465570.1:p.Glu18132=
ENST00000615779.4:c.54396G>A (TTN)	ENSP00000483597.1:p.Glu18132=
NM_001256850.1:c.54396G>A (TTN)	NP_001243779.1:p.Glu18132=
NM_001267550.2:c.59319G>A (TTN) MANE Select	NP_001254479.2:p.Glu19773=
NM_003319.4:c.32124G>A (TTN)	NP_003310.4:p.Glu10708=
NM_133378.4:c.51615G>A (TTN)	NP_596869.4:p.Glu17205=
NM_133432.3:c.32499G>A (TTN)	NP_597676.3:p.Glu10833=
NM_133437.4:c.32700G>A (TTN)	NP_597681.4:p.Glu10900=
NR_038271.1:n.597-4796C>T (TTN-AS1)
NR_038272.1:n.3364+1486C>T (TTN-AS1)
XM_011511729.1:c.58416G>A (TTN)	XP_011510031.1:p.Glu19472=
XM_011511730.1:c.32310G>A (TTN)	XP_011510032.1:p.Glu10770=
XM_011511731.1:c.32169G>A (TTN)	XP_011510033.1:p.Glu10723=
XM_017004819.1:c.58212G>A (TTN)	XP_016860308.1:p.Glu19404=
XM_017004820.1:c.53610G>A (TTN)	XP_016860309.1:p.Glu17870=
XM_017004821.1:c.53607G>A (TTN)	XP_016860310.1:p.Glu17869=
XM_017004822.1:c.50649G>A (TTN)	XP_016860311.1:p.Glu16883=
XM_017004823.1:c.32265G>A (TTN)	XP_016860312.1:p.Glu10755=
XM_024453094.1:c.53760G>A (TTN)	XP_024308862.1:p.Glu17920=
XM_024453095.1:c.53757G>A (TTN)	XP_024308863.1:p.Glu17919=
XM_024453096.1:c.53190G>A (TTN)	XP_024308864.1:p.Glu17730=
XM_024453097.1:c.50532G>A (TTN)	XP_024308865.1:p.Glu16844=
XM_024453098.1:c.50451G>A (TTN)	XP_024308866.1:p.Glu16817=
XM_024453099.1:c.32214G>A (TTN)	XP_024308867.1:p.Glu10738=
XM_024453100.1:c.22068G>A (TTN)	XP_024308868.1:p.Glu7356=