Canonical Allele Identifier: CA349496498

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457774T>A (hg19) ; chr2:g.178593047T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593047T>A , CM000664.2:g.178593047T>A	GRCh38
NC_000002.11:g.179457774T>A , CM000664.1:g.179457774T>A	GRCh37
NC_000002.10:g.179166020T>A	NCBI36
NG_011618.3:g.242756A>T , LRG_391:g.242756A>T
NG_051363.1:g.75221T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51368A>T (TTN)	ENSP00000343764.6:p.Asp17123Val
ENST00000342175.11:c.32453A>T (TTN)	ENSP00000340554.6:p.Asp10818Val
ENST00000359218.10:c.32252A>T (TTN)	ENSP00000352154.5:p.Asp10751Val
ENST00000342175.10:c.32453A>T (TTN)	ENSP00000340554.6:p.Asp10818Val
ENST00000342992.10:c.51368A>T (TTN)	ENSP00000343764.6:p.Asp17123Val
ENST00000359218.9:c.32252A>T (TTN)	ENSP00000352154.5:p.Asp10751Val
ENST00000460472.6:c.31877A>T (TTN)	ENSP00000434586.1:p.Asp10626Val
ENST00000589042.5:c.59072A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp19691Val
ENST00000591111.5:c.54149A>T (TTN)	ENSP00000465570.1:p.Asp18050Val
ENST00000615779.4:c.54149A>T (TTN)	ENSP00000483597.1:p.Asp18050Val
NM_001256850.1:c.54149A>T (TTN)	NP_001243779.1:p.Asp18050Val
NM_001267550.2:c.59072A>T (TTN) MANE Select	NP_001254479.2:p.Asp19691Val
NM_003319.4:c.31877A>T (TTN)	NP_003310.4:p.Asp10626Val
NM_133378.4:c.51368A>T (TTN)	NP_596869.4:p.Asp17123Val
NM_133432.3:c.32252A>T (TTN)	NP_597676.3:p.Asp10751Val
NM_133437.4:c.32453A>T (TTN)	NP_597681.4:p.Asp10818Val
NR_038271.1:n.597-4549T>A (TTN-AS1)
NR_038272.1:n.3364+1733T>A (TTN-AS1)
XM_011511729.1:c.58169A>T (TTN)	XP_011510031.1:p.Asp19390Val
XM_011511730.1:c.32063A>T (TTN)	XP_011510032.1:p.Asp10688Val
XM_011511731.1:c.31922A>T (TTN)	XP_011510033.1:p.Asp10641Val
XM_017004819.1:c.57965A>T (TTN)	XP_016860308.1:p.Asp19322Val
XM_017004820.1:c.53363A>T (TTN)	XP_016860309.1:p.Asp17788Val
XM_017004821.1:c.53360A>T (TTN)	XP_016860310.1:p.Asp17787Val
XM_017004822.1:c.50402A>T (TTN)	XP_016860311.1:p.Asp16801Val
XM_017004823.1:c.32018A>T (TTN)	XP_016860312.1:p.Asp10673Val
XM_024453094.1:c.53513A>T (TTN)	XP_024308862.1:p.Asp17838Val
XM_024453095.1:c.53510A>T (TTN)	XP_024308863.1:p.Asp17837Val
XM_024453096.1:c.52943A>T (TTN)	XP_024308864.1:p.Asp17648Val
XM_024453097.1:c.50285A>T (TTN)	XP_024308865.1:p.Asp16762Val
XM_024453098.1:c.50204A>T (TTN)	XP_024308866.1:p.Asp16735Val
XM_024453099.1:c.31967A>T (TTN)	XP_024308867.1:p.Asp10656Val
XM_024453100.1:c.21821A>T (TTN)	XP_024308868.1:p.Asp7274Val