Canonical Allele Identifier: CA349434904

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179404803T>A (hg19) ; chr2:g.178540076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178540076T>A , CM000664.2:g.178540076T>A	GRCh38
NC_000002.11:g.179404803T>A , CM000664.1:g.179404803T>A	GRCh37
NC_000002.10:g.179113049T>A	NCBI36
NG_011618.3:g.295727A>T , LRG_391:g.295727A>T
NG_051363.1:g.22250T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.90386A>T (TTN)	ENSP00000343764.6:p.Glu30129Val
ENST00000342175.11:c.71471A>T (TTN)	ENSP00000340554.6:p.Glu23824Val
ENST00000359218.10:c.71270A>T (TTN)	ENSP00000352154.5:p.Glu23757Val
ENST00000342175.10:c.71471A>T (TTN)	ENSP00000340554.6:p.Glu23824Val
ENST00000342992.10:c.90386A>T (TTN)	ENSP00000343764.6:p.Glu30129Val
ENST00000359218.9:c.71270A>T (TTN)	ENSP00000352154.5:p.Glu23757Val
ENST00000460472.6:c.70895A>T (TTN)	ENSP00000434586.1:p.Glu23632Val
ENST00000589042.5:c.98090A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu32697Val
ENST00000591111.5:c.93167A>T (TTN)	ENSP00000465570.1:p.Glu31056Val
ENST00000615779.4:c.93167A>T (TTN)	ENSP00000483597.1:p.Glu31056Val
NM_001256850.1:c.93167A>T (TTN)	NP_001243779.1:p.Glu31056Val
NM_001267550.2:c.98090A>T (TTN) MANE Select	NP_001254479.2:p.Glu32697Val
NM_003319.4:c.70895A>T (TTN)	NP_003310.4:p.Glu23632Val
NM_133378.4:c.90386A>T (TTN)	NP_596869.4:p.Glu30129Val
NM_133432.3:c.71270A>T (TTN)	NP_597676.3:p.Glu23757Val
NM_133437.4:c.71471A>T (TTN)	NP_597681.4:p.Glu23824Val
NR_038271.1:n.446+16440T>A (TTN-AS1)
NR_038272.1:n.1841-31T>A (TTN-AS1)
XM_011511729.1:c.97187A>T (TTN)	XP_011510031.1:p.Glu32396Val
XM_011511730.1:c.71081A>T (TTN)	XP_011510032.1:p.Glu23694Val
XM_011511731.1:c.70940A>T (TTN)	XP_011510033.1:p.Glu23647Val
XM_017004819.1:c.96983A>T (TTN)	XP_016860308.1:p.Glu32328Val
XM_017004820.1:c.92381A>T (TTN)	XP_016860309.1:p.Glu30794Val
XM_017004821.1:c.92378A>T (TTN)	XP_016860310.1:p.Glu30793Val
XM_017004822.1:c.89420A>T (TTN)	XP_016860311.1:p.Glu29807Val
XM_017004823.1:c.71036A>T (TTN)	XP_016860312.1:p.Glu23679Val
XM_024453094.1:c.92531A>T (TTN)	XP_024308862.1:p.Glu30844Val
XM_024453095.1:c.92528A>T (TTN)	XP_024308863.1:p.Glu30843Val
XM_024453096.1:c.91961A>T (TTN)	XP_024308864.1:p.Glu30654Val
XM_024453097.1:c.89303A>T (TTN)	XP_024308865.1:p.Glu29768Val
XM_024453098.1:c.89222A>T (TTN)	XP_024308866.1:p.Glu29741Val
XM_024453099.1:c.70985A>T (TTN)	XP_024308867.1:p.Glu23662Val
XM_024453100.1:c.60839A>T (TTN)	XP_024308868.1:p.Glu20280Val