Canonical Allele Identifier: CA349496652

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457789T>A (hg19) ; chr2:g.178593062T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593062T>A , CM000664.2:g.178593062T>A	GRCh38
NC_000002.11:g.179457789T>A , CM000664.1:g.179457789T>A	GRCh37
NC_000002.10:g.179166035T>A	NCBI36
NG_011618.3:g.242741A>T , LRG_391:g.242741A>T
NG_051363.1:g.75236T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51353A>T (TTN)	ENSP00000343764.6:p.Asn17118Ile
ENST00000342175.11:c.32438A>T (TTN)	ENSP00000340554.6:p.Asn10813Ile
ENST00000359218.10:c.32237A>T (TTN)	ENSP00000352154.5:p.Asn10746Ile
ENST00000342175.10:c.32438A>T (TTN)	ENSP00000340554.6:p.Asn10813Ile
ENST00000342992.10:c.51353A>T (TTN)	ENSP00000343764.6:p.Asn17118Ile
ENST00000359218.9:c.32237A>T (TTN)	ENSP00000352154.5:p.Asn10746Ile
ENST00000460472.6:c.31862A>T (TTN)	ENSP00000434586.1:p.Asn10621Ile
ENST00000589042.5:c.59057A>T (TTN) MANE Select	ENSP00000467141.1:p.Asn19686Ile
ENST00000591111.5:c.54134A>T (TTN)	ENSP00000465570.1:p.Asn18045Ile
ENST00000615779.4:c.54134A>T (TTN)	ENSP00000483597.1:p.Asn18045Ile
NM_001256850.1:c.54134A>T (TTN)	NP_001243779.1:p.Asn18045Ile
NM_001267550.2:c.59057A>T (TTN) MANE Select	NP_001254479.2:p.Asn19686Ile
NM_003319.4:c.31862A>T (TTN)	NP_003310.4:p.Asn10621Ile
NM_133378.4:c.51353A>T (TTN)	NP_596869.4:p.Asn17118Ile
NM_133432.3:c.32237A>T (TTN)	NP_597676.3:p.Asn10746Ile
NM_133437.4:c.32438A>T (TTN)	NP_597681.4:p.Asn10813Ile
NR_038271.1:n.597-4534T>A (TTN-AS1)
NR_038272.1:n.3364+1748T>A (TTN-AS1)
XM_011511729.1:c.58154A>T (TTN)	XP_011510031.1:p.Asn19385Ile
XM_011511730.1:c.32048A>T (TTN)	XP_011510032.1:p.Asn10683Ile
XM_011511731.1:c.31907A>T (TTN)	XP_011510033.1:p.Asn10636Ile
XM_017004819.1:c.57950A>T (TTN)	XP_016860308.1:p.Asn19317Ile
XM_017004820.1:c.53348A>T (TTN)	XP_016860309.1:p.Asn17783Ile
XM_017004821.1:c.53345A>T (TTN)	XP_016860310.1:p.Asn17782Ile
XM_017004822.1:c.50387A>T (TTN)	XP_016860311.1:p.Asn16796Ile
XM_017004823.1:c.32003A>T (TTN)	XP_016860312.1:p.Asn10668Ile
XM_024453094.1:c.53498A>T (TTN)	XP_024308862.1:p.Asn17833Ile
XM_024453095.1:c.53495A>T (TTN)	XP_024308863.1:p.Asn17832Ile
XM_024453096.1:c.52928A>T (TTN)	XP_024308864.1:p.Asn17643Ile
XM_024453097.1:c.50270A>T (TTN)	XP_024308865.1:p.Asn16757Ile
XM_024453098.1:c.50189A>T (TTN)	XP_024308866.1:p.Asn16730Ile
XM_024453099.1:c.31952A>T (TTN)	XP_024308867.1:p.Asn10651Ile
XM_024453100.1:c.21806A>T (TTN)	XP_024308868.1:p.Asn7269Ile