Canonical Allele Identifier: CA430264074

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1091865
• ClinVar RCV Id: RCV001411504
• dbSNP Id: rs2154180021
• MyVariant Identifiers: chr2:g.179449412A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584685A>T , CM000664.2:g.178584685A>T	GRCh38
NC_000002.11:g.179449412A>T , CM000664.1:g.179449412A>T	GRCh37
NC_000002.10:g.179157658A>T	NCBI36
NG_011618.3:g.251118T>A , LRG_391:g.251118T>A
NG_051363.1:g.66859A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.57252T>A (TTN)	ENSP00000343764.6:p.Val19084=
ENST00000342175.11:c.38337T>A (TTN)	ENSP00000340554.6:p.Val12779=
ENST00000359218.10:c.38136T>A (TTN)	ENSP00000352154.5:p.Val12712=
ENST00000342175.10:c.38337T>A (TTN)	ENSP00000340554.6:p.Val12779=
ENST00000342992.10:c.57252T>A (TTN)	ENSP00000343764.6:p.Val19084=
ENST00000359218.9:c.38136T>A (TTN)	ENSP00000352154.5:p.Val12712=
ENST00000460472.6:c.37761T>A (TTN)	ENSP00000434586.1:p.Val12587=
ENST00000589042.5:c.64956T>A (TTN) MANE Select	ENSP00000467141.1:p.Val21652=
ENST00000591111.5:c.60033T>A (TTN)	ENSP00000465570.1:p.Val20011=
ENST00000615779.4:c.60033T>A (TTN)	ENSP00000483597.1:p.Val20011=
NM_001256850.1:c.60033T>A (TTN)	NP_001243779.1:p.Val20011=
NM_001267550.2:c.64956T>A (TTN) MANE Select	NP_001254479.2:p.Val21652=
NM_003319.4:c.37761T>A (TTN)	NP_003310.4:p.Val12587=
NM_133378.4:c.57252T>A (TTN)	NP_596869.4:p.Val19084=
NM_133432.3:c.38136T>A (TTN)	NP_597676.3:p.Val12712=
NM_133437.4:c.38337T>A (TTN)	NP_597681.4:p.Val12779=
NR_038271.1:n.597-12911A>T (TTN-AS1)
NR_038272.1:n.2880A>T (TTN-AS1)
XM_011511729.1:c.64053T>A (TTN)	XP_011510031.1:p.Val21351=
XM_011511730.1:c.37947T>A (TTN)	XP_011510032.1:p.Val12649=
XM_011511731.1:c.37806T>A (TTN)	XP_011510033.1:p.Val12602=
XM_017004819.1:c.63849T>A (TTN)	XP_016860308.1:p.Val21283=
XM_017004820.1:c.59247T>A (TTN)	XP_016860309.1:p.Val19749=
XM_017004821.1:c.59244T>A (TTN)	XP_016860310.1:p.Val19748=
XM_017004822.1:c.56286T>A (TTN)	XP_016860311.1:p.Val18762=
XM_017004823.1:c.37902T>A (TTN)	XP_016860312.1:p.Val12634=
XM_024453094.1:c.59397T>A (TTN)	XP_024308862.1:p.Val19799=
XM_024453095.1:c.59394T>A (TTN)	XP_024308863.1:p.Val19798=
XM_024453096.1:c.58827T>A (TTN)	XP_024308864.1:p.Val19609=
XM_024453097.1:c.56169T>A (TTN)	XP_024308865.1:p.Val18723=
XM_024453098.1:c.56088T>A (TTN)	XP_024308866.1:p.Val18696=
XM_024453099.1:c.37851T>A (TTN)	XP_024308867.1:p.Val12617=
XM_024453100.1:c.27705T>A (TTN)	XP_024308868.1:p.Val9235=