Canonical Allele Identifier: CA1988527

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs754113086
• ExAC: 2:179424562 A / G
• gnomAD v2: 2-179424562-A-G
• gnomAD v4: 2-178559835-A-G
• MyVariant Identifiers: chr2:g.179424562A>G (hg19) ; chr2:g.178559835A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559835A>G , CM000664.2:g.178559835A>G	GRCh38
NC_000002.11:g.179424562A>G , CM000664.1:g.179424562A>G	GRCh37
NC_000002.10:g.179132808A>G	NCBI36
NG_011618.3:g.275968T>C , LRG_391:g.275968T>C
NG_051363.1:g.42009A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78593T>C (TTN)	ENSP00000343764.6:p.Val26198Ala
ENST00000342175.11:c.59678T>C (TTN)	ENSP00000340554.6:p.Val19893Ala
ENST00000359218.10:c.59477T>C (TTN)	ENSP00000352154.5:p.Val19826Ala
ENST00000342175.10:c.59678T>C (TTN)	ENSP00000340554.6:p.Val19893Ala
ENST00000342992.10:c.78593T>C (TTN)	ENSP00000343764.6:p.Val26198Ala
ENST00000359218.9:c.59477T>C (TTN)	ENSP00000352154.5:p.Val19826Ala
ENST00000460472.6:c.59102T>C (TTN)	ENSP00000434586.1:p.Val19701Ala
ENST00000589042.5:c.86297T>C (TTN) MANE Select	ENSP00000467141.1:p.Val28766Ala
ENST00000591111.5:c.81374T>C (TTN)	ENSP00000465570.1:p.Val27125Ala
ENST00000615779.4:c.81374T>C (TTN)	ENSP00000483597.1:p.Val27125Ala
NM_001256850.1:c.81374T>C (TTN)	NP_001243779.1:p.Val27125Ala
NM_001267550.2:c.86297T>C (TTN) MANE Select	NP_001254479.2:p.Val28766Ala
NM_003319.4:c.59102T>C (TTN)	NP_003310.4:p.Val19701Ala
NM_133378.4:c.78593T>C (TTN)	NP_596869.4:p.Val26198Ala
NM_133432.3:c.59477T>C (TTN)	NP_597676.3:p.Val19826Ala
NM_133437.4:c.59678T>C (TTN)	NP_597681.4:p.Val19893Ala
NR_038271.1:n.447-11465A>G (TTN-AS1)
NR_038272.1:n.2043+17474A>G (TTN-AS1)
XM_011511729.1:c.85394T>C (TTN)	XP_011510031.1:p.Val28465Ala
XM_011511730.1:c.59288T>C (TTN)	XP_011510032.1:p.Val19763Ala
XM_011511731.1:c.59147T>C (TTN)	XP_011510033.1:p.Val19716Ala
XM_017004819.1:c.85190T>C (TTN)	XP_016860308.1:p.Val28397Ala
XM_017004820.1:c.80588T>C (TTN)	XP_016860309.1:p.Val26863Ala
XM_017004821.1:c.80585T>C (TTN)	XP_016860310.1:p.Val26862Ala
XM_017004822.1:c.77627T>C (TTN)	XP_016860311.1:p.Val25876Ala
XM_017004823.1:c.59243T>C (TTN)	XP_016860312.1:p.Val19748Ala
XM_024453094.1:c.80738T>C (TTN)	XP_024308862.1:p.Val26913Ala
XM_024453095.1:c.80735T>C (TTN)	XP_024308863.1:p.Val26912Ala
XM_024453096.1:c.80168T>C (TTN)	XP_024308864.1:p.Val26723Ala
XM_024453097.1:c.77510T>C (TTN)	XP_024308865.1:p.Val25837Ala
XM_024453098.1:c.77429T>C (TTN)	XP_024308866.1:p.Val25810Ala
XM_024453099.1:c.59192T>C (TTN)	XP_024308867.1:p.Val19731Ala
XM_024453100.1:c.49046T>C (TTN)	XP_024308868.1:p.Val16349Ala