Canonical Allele Identifier: CA1990526

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 595913
• ClinVar RCV Id: RCV000731596
• dbSNP Id: rs774226045
• ExAC: 2:179438596 A / G
• gnomAD v2: 2-179438596-A-G
• gnomAD v3: 2-178573869-A-G
• gnomAD v4: 2-178573869-A-G
• MyVariant Identifiers: chr2:g.179438596A>G (hg19) ; chr2:g.178573869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573869A>G , CM000664.2:g.178573869A>G	GRCh38
NC_000002.11:g.179438596A>G , CM000664.1:g.179438596A>G	GRCh37
NC_000002.10:g.179146842A>G	NCBI36
NG_011618.3:g.261934T>C , LRG_391:g.261934T>C
NG_051363.1:g.56043A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64559T>C (TTN)	ENSP00000343764.6:p.Val21520Ala
ENST00000342175.11:c.45644T>C (TTN)	ENSP00000340554.6:p.Val15215Ala
ENST00000359218.10:c.45443T>C (TTN)	ENSP00000352154.5:p.Val15148Ala
ENST00000342175.10:c.45644T>C (TTN)	ENSP00000340554.6:p.Val15215Ala
ENST00000342992.10:c.64559T>C (TTN)	ENSP00000343764.6:p.Val21520Ala
ENST00000359218.9:c.45443T>C (TTN)	ENSP00000352154.5:p.Val15148Ala
ENST00000460472.6:c.45068T>C (TTN)	ENSP00000434586.1:p.Val15023Ala
ENST00000589042.5:c.72263T>C (TTN) MANE Select	ENSP00000467141.1:p.Val24088Ala
ENST00000591111.5:c.67340T>C (TTN)	ENSP00000465570.1:p.Val22447Ala
ENST00000615779.4:c.67340T>C (TTN)	ENSP00000483597.1:p.Val22447Ala
NM_001256850.1:c.67340T>C (TTN)	NP_001243779.1:p.Val22447Ala
NM_001267550.2:c.72263T>C (TTN) MANE Select	NP_001254479.2:p.Val24088Ala
NM_003319.4:c.45068T>C (TTN)	NP_003310.4:p.Val15023Ala
NM_133378.4:c.64559T>C (TTN)	NP_596869.4:p.Val21520Ala
NM_133432.3:c.45443T>C (TTN)	NP_597676.3:p.Val15148Ala
NM_133437.4:c.45644T>C (TTN)	NP_597681.4:p.Val15215Ala
NR_038271.1:n.596+2420A>G (TTN-AS1)
NR_038272.1:n.2044-8703A>G (TTN-AS1)
XM_011511729.1:c.71360T>C (TTN)	XP_011510031.1:p.Val23787Ala
XM_011511730.1:c.45254T>C (TTN)	XP_011510032.1:p.Val15085Ala
XM_011511731.1:c.45113T>C (TTN)	XP_011510033.1:p.Val15038Ala
XM_017004819.1:c.71156T>C (TTN)	XP_016860308.1:p.Val23719Ala
XM_017004820.1:c.66554T>C (TTN)	XP_016860309.1:p.Val22185Ala
XM_017004821.1:c.66551T>C (TTN)	XP_016860310.1:p.Val22184Ala
XM_017004822.1:c.63593T>C (TTN)	XP_016860311.1:p.Val21198Ala
XM_017004823.1:c.45209T>C (TTN)	XP_016860312.1:p.Val15070Ala
XM_024453094.1:c.66704T>C (TTN)	XP_024308862.1:p.Val22235Ala
XM_024453095.1:c.66701T>C (TTN)	XP_024308863.1:p.Val22234Ala
XM_024453096.1:c.66134T>C (TTN)	XP_024308864.1:p.Val22045Ala
XM_024453097.1:c.63476T>C (TTN)	XP_024308865.1:p.Val21159Ala
XM_024453098.1:c.63395T>C (TTN)	XP_024308866.1:p.Val21132Ala
XM_024453099.1:c.45158T>C (TTN)	XP_024308867.1:p.Val15053Ala
XM_024453100.1:c.35012T>C (TTN)	XP_024308868.1:p.Val11671Ala