Canonical Allele Identifier: CA349648597

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438767A>C (hg19) ; chr2:g.178574040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574040A>C , CM000664.2:g.178574040A>C	GRCh38
NC_000002.11:g.179438767A>C , CM000664.1:g.179438767A>C	GRCh37
NC_000002.10:g.179147013A>C	NCBI36
NG_011618.3:g.261763T>G , LRG_391:g.261763T>G
NG_051363.1:g.56214A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64388T>G (TTN)	ENSP00000343764.6:p.Val21463Gly
ENST00000342175.11:c.45473T>G (TTN)	ENSP00000340554.6:p.Val15158Gly
ENST00000359218.10:c.45272T>G (TTN)	ENSP00000352154.5:p.Val15091Gly
ENST00000342175.10:c.45473T>G (TTN)	ENSP00000340554.6:p.Val15158Gly
ENST00000342992.10:c.64388T>G (TTN)	ENSP00000343764.6:p.Val21463Gly
ENST00000359218.9:c.45272T>G (TTN)	ENSP00000352154.5:p.Val15091Gly
ENST00000460472.6:c.44897T>G (TTN)	ENSP00000434586.1:p.Val14966Gly
ENST00000589042.5:c.72092T>G (TTN) MANE Select	ENSP00000467141.1:p.Val24031Gly
ENST00000591111.5:c.67169T>G (TTN)	ENSP00000465570.1:p.Val22390Gly
ENST00000615779.4:c.67169T>G (TTN)	ENSP00000483597.1:p.Val22390Gly
NM_001256850.1:c.67169T>G (TTN)	NP_001243779.1:p.Val22390Gly
NM_001267550.2:c.72092T>G (TTN) MANE Select	NP_001254479.2:p.Val24031Gly
NM_003319.4:c.44897T>G (TTN)	NP_003310.4:p.Val14966Gly
NM_133378.4:c.64388T>G (TTN)	NP_596869.4:p.Val21463Gly
NM_133432.3:c.45272T>G (TTN)	NP_597676.3:p.Val15091Gly
NM_133437.4:c.45473T>G (TTN)	NP_597681.4:p.Val15158Gly
NR_038271.1:n.596+2591A>C (TTN-AS1)
NR_038272.1:n.2044-8532A>C (TTN-AS1)
XM_011511729.1:c.71189T>G (TTN)	XP_011510031.1:p.Val23730Gly
XM_011511730.1:c.45083T>G (TTN)	XP_011510032.1:p.Val15028Gly
XM_011511731.1:c.44942T>G (TTN)	XP_011510033.1:p.Val14981Gly
XM_017004819.1:c.70985T>G (TTN)	XP_016860308.1:p.Val23662Gly
XM_017004820.1:c.66383T>G (TTN)	XP_016860309.1:p.Val22128Gly
XM_017004821.1:c.66380T>G (TTN)	XP_016860310.1:p.Val22127Gly
XM_017004822.1:c.63422T>G (TTN)	XP_016860311.1:p.Val21141Gly
XM_017004823.1:c.45038T>G (TTN)	XP_016860312.1:p.Val15013Gly
XM_024453094.1:c.66533T>G (TTN)	XP_024308862.1:p.Val22178Gly
XM_024453095.1:c.66530T>G (TTN)	XP_024308863.1:p.Val22177Gly
XM_024453096.1:c.65963T>G (TTN)	XP_024308864.1:p.Val21988Gly
XM_024453097.1:c.63305T>G (TTN)	XP_024308865.1:p.Val21102Gly
XM_024453098.1:c.63224T>G (TTN)	XP_024308866.1:p.Val21075Gly
XM_024453099.1:c.44987T>G (TTN)	XP_024308867.1:p.Val14996Gly
XM_024453100.1:c.34841T>G (TTN)	XP_024308868.1:p.Val11614Gly