Canonical Allele Identifier: CA349456971

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409116T>A (hg19) ; chr2:g.178544389T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544389T>A , CM000664.2:g.178544389T>A	GRCh38
NC_000002.11:g.179409116T>A , CM000664.1:g.179409116T>A	GRCh37
NC_000002.10:g.179117362T>A	NCBI36
NG_011618.3:g.291414A>T , LRG_391:g.291414A>T
NG_051363.1:g.26563T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88136A>T (TTN)	ENSP00000343764.6:p.Glu29379Val
ENST00000342175.11:c.69221A>T (TTN)	ENSP00000340554.6:p.Glu23074Val
ENST00000359218.10:c.69020A>T (TTN)	ENSP00000352154.5:p.Glu23007Val
ENST00000342175.10:c.69221A>T (TTN)	ENSP00000340554.6:p.Glu23074Val
ENST00000342992.10:c.88136A>T (TTN)	ENSP00000343764.6:p.Glu29379Val
ENST00000359218.9:c.69020A>T (TTN)	ENSP00000352154.5:p.Glu23007Val
ENST00000460472.6:c.68645A>T (TTN)	ENSP00000434586.1:p.Glu22882Val
ENST00000589042.5:c.95840A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31947Val
ENST00000591111.5:c.90917A>T (TTN)	ENSP00000465570.1:p.Glu30306Val
ENST00000615779.4:c.90917A>T (TTN)	ENSP00000483597.1:p.Glu30306Val
NM_001256850.1:c.90917A>T (TTN)	NP_001243779.1:p.Glu30306Val
NM_001267550.2:c.95840A>T (TTN) MANE Select	NP_001254479.2:p.Glu31947Val
NM_003319.4:c.68645A>T (TTN)	NP_003310.4:p.Glu22882Val
NM_133378.4:c.88136A>T (TTN)	NP_596869.4:p.Glu29379Val
NM_133432.3:c.69020A>T (TTN)	NP_597676.3:p.Glu23007Val
NM_133437.4:c.69221A>T (TTN)	NP_597681.4:p.Glu23074Val
NR_038271.1:n.446+20753T>A (TTN-AS1)
NR_038272.1:n.2043+2028T>A (TTN-AS1)
XM_011511729.1:c.94937A>T (TTN)	XP_011510031.1:p.Glu31646Val
XM_011511730.1:c.68831A>T (TTN)	XP_011510032.1:p.Glu22944Val
XM_011511731.1:c.68690A>T (TTN)	XP_011510033.1:p.Glu22897Val
XM_017004819.1:c.94733A>T (TTN)	XP_016860308.1:p.Glu31578Val
XM_017004820.1:c.90131A>T (TTN)	XP_016860309.1:p.Glu30044Val
XM_017004821.1:c.90128A>T (TTN)	XP_016860310.1:p.Glu30043Val
XM_017004822.1:c.87170A>T (TTN)	XP_016860311.1:p.Glu29057Val
XM_017004823.1:c.68786A>T (TTN)	XP_016860312.1:p.Glu22929Val
XM_024453094.1:c.90281A>T (TTN)	XP_024308862.1:p.Glu30094Val
XM_024453095.1:c.90278A>T (TTN)	XP_024308863.1:p.Glu30093Val
XM_024453096.1:c.89711A>T (TTN)	XP_024308864.1:p.Glu29904Val
XM_024453097.1:c.87053A>T (TTN)	XP_024308865.1:p.Glu29018Val
XM_024453098.1:c.86972A>T (TTN)	XP_024308866.1:p.Glu28991Val
XM_024453099.1:c.68735A>T (TTN)	XP_024308867.1:p.Glu22912Val
XM_024453100.1:c.58589A>T (TTN)	XP_024308868.1:p.Glu19530Val