Canonical Allele Identifier: CA430252108

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 744958
• ClinVar RCV Id: RCV001407369
• dbSNP Id: rs1575683593
• MyVariant Identifiers: chr2:g.179431164G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566437G>A , CM000664.2:g.178566437G>A	GRCh38
NC_000002.11:g.179431164G>A , CM000664.1:g.179431164G>A	GRCh37
NC_000002.10:g.179139410G>A	NCBI36
NG_011618.3:g.269366C>T , LRG_391:g.269366C>T
NG_051363.1:g.48611G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71991C>T (TTN)	ENSP00000343764.6:p.Ala23997=
ENST00000342175.11:c.53076C>T (TTN)	ENSP00000340554.6:p.Ala17692=
ENST00000359218.10:c.52875C>T (TTN)	ENSP00000352154.5:p.Ala17625=
ENST00000342175.10:c.53076C>T (TTN)	ENSP00000340554.6:p.Ala17692=
ENST00000342992.10:c.71991C>T (TTN)	ENSP00000343764.6:p.Ala23997=
ENST00000359218.9:c.52875C>T (TTN)	ENSP00000352154.5:p.Ala17625=
ENST00000460472.6:c.52500C>T (TTN)	ENSP00000434586.1:p.Ala17500=
ENST00000589042.5:c.79695C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala26565=
ENST00000591111.5:c.74772C>T (TTN)	ENSP00000465570.1:p.Ala24924=
ENST00000615779.4:c.74772C>T (TTN)	ENSP00000483597.1:p.Ala24924=
NM_001256850.1:c.74772C>T (TTN)	NP_001243779.1:p.Ala24924=
NM_001267550.2:c.79695C>T (TTN) MANE Select	NP_001254479.2:p.Ala26565=
NM_003319.4:c.52500C>T (TTN)	NP_003310.4:p.Ala17500=
NM_133378.4:c.71991C>T (TTN)	NP_596869.4:p.Ala23997=
NM_133432.3:c.52875C>T (TTN)	NP_597676.3:p.Ala17625=
NM_133437.4:c.53076C>T (TTN)	NP_597681.4:p.Ala17692=
NR_038271.1:n.447-4863G>A (TTN-AS1)
NR_038272.1:n.2044-16135G>A (TTN-AS1)
XM_011511729.1:c.78792C>T (TTN)	XP_011510031.1:p.Ala26264=
XM_011511730.1:c.52686C>T (TTN)	XP_011510032.1:p.Ala17562=
XM_011511731.1:c.52545C>T (TTN)	XP_011510033.1:p.Ala17515=
XM_017004819.1:c.78588C>T (TTN)	XP_016860308.1:p.Ala26196=
XM_017004820.1:c.73986C>T (TTN)	XP_016860309.1:p.Ala24662=
XM_017004821.1:c.73983C>T (TTN)	XP_016860310.1:p.Ala24661=
XM_017004822.1:c.71025C>T (TTN)	XP_016860311.1:p.Ala23675=
XM_017004823.1:c.52641C>T (TTN)	XP_016860312.1:p.Ala17547=
XM_024453094.1:c.74136C>T (TTN)	XP_024308862.1:p.Ala24712=
XM_024453095.1:c.74133C>T (TTN)	XP_024308863.1:p.Ala24711=
XM_024453096.1:c.73566C>T (TTN)	XP_024308864.1:p.Ala24522=
XM_024453097.1:c.70908C>T (TTN)	XP_024308865.1:p.Ala23636=
XM_024453098.1:c.70827C>T (TTN)	XP_024308866.1:p.Ala23609=
XM_024453099.1:c.52590C>T (TTN)	XP_024308867.1:p.Ala17530=
XM_024453100.1:c.42444C>T (TTN)	XP_024308868.1:p.Ala14148=