Canonical Allele Identifier: CA349458100

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409200A>G (hg19) ; chr2:g.178544473A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544473A>G , CM000664.2:g.178544473A>G	GRCh38
NC_000002.11:g.179409200A>G , CM000664.1:g.179409200A>G	GRCh37
NC_000002.10:g.179117446A>G	NCBI36
NG_011618.3:g.291330T>C , LRG_391:g.291330T>C
NG_051363.1:g.26647A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88052T>C (TTN)	ENSP00000343764.6:p.Val29351Ala
ENST00000342175.11:c.69137T>C (TTN)	ENSP00000340554.6:p.Val23046Ala
ENST00000359218.10:c.68936T>C (TTN)	ENSP00000352154.5:p.Val22979Ala
ENST00000342175.10:c.69137T>C (TTN)	ENSP00000340554.6:p.Val23046Ala
ENST00000342992.10:c.88052T>C (TTN)	ENSP00000343764.6:p.Val29351Ala
ENST00000359218.9:c.68936T>C (TTN)	ENSP00000352154.5:p.Val22979Ala
ENST00000460472.6:c.68561T>C (TTN)	ENSP00000434586.1:p.Val22854Ala
ENST00000589042.5:c.95756T>C (TTN) MANE Select	ENSP00000467141.1:p.Val31919Ala
ENST00000591111.5:c.90833T>C (TTN)	ENSP00000465570.1:p.Val30278Ala
ENST00000615779.4:c.90833T>C (TTN)	ENSP00000483597.1:p.Val30278Ala
NM_001256850.1:c.90833T>C (TTN)	NP_001243779.1:p.Val30278Ala
NM_001267550.2:c.95756T>C (TTN) MANE Select	NP_001254479.2:p.Val31919Ala
NM_003319.4:c.68561T>C (TTN)	NP_003310.4:p.Val22854Ala
NM_133378.4:c.88052T>C (TTN)	NP_596869.4:p.Val29351Ala
NM_133432.3:c.68936T>C (TTN)	NP_597676.3:p.Val22979Ala
NM_133437.4:c.69137T>C (TTN)	NP_597681.4:p.Val23046Ala
NR_038271.1:n.446+20837A>G (TTN-AS1)
NR_038272.1:n.2043+2112A>G (TTN-AS1)
XM_011511729.1:c.94853T>C (TTN)	XP_011510031.1:p.Val31618Ala
XM_011511730.1:c.68747T>C (TTN)	XP_011510032.1:p.Val22916Ala
XM_011511731.1:c.68606T>C (TTN)	XP_011510033.1:p.Val22869Ala
XM_017004819.1:c.94649T>C (TTN)	XP_016860308.1:p.Val31550Ala
XM_017004820.1:c.90047T>C (TTN)	XP_016860309.1:p.Val30016Ala
XM_017004821.1:c.90044T>C (TTN)	XP_016860310.1:p.Val30015Ala
XM_017004822.1:c.87086T>C (TTN)	XP_016860311.1:p.Val29029Ala
XM_017004823.1:c.68702T>C (TTN)	XP_016860312.1:p.Val22901Ala
XM_024453094.1:c.90197T>C (TTN)	XP_024308862.1:p.Val30066Ala
XM_024453095.1:c.90194T>C (TTN)	XP_024308863.1:p.Val30065Ala
XM_024453096.1:c.89627T>C (TTN)	XP_024308864.1:p.Val29876Ala
XM_024453097.1:c.86969T>C (TTN)	XP_024308865.1:p.Val28990Ala
XM_024453098.1:c.86888T>C (TTN)	XP_024308866.1:p.Val28963Ala
XM_024453099.1:c.68651T>C (TTN)	XP_024308867.1:p.Val22884Ala
XM_024453100.1:c.58505T>C (TTN)	XP_024308868.1:p.Val19502Ala