Canonical Allele Identifier: CA349507186

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179458762T>A (hg19) ; chr2:g.178594035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594035T>A , CM000664.2:g.178594035T>A	GRCh38
NC_000002.11:g.179458762T>A , CM000664.1:g.179458762T>A	GRCh37
NC_000002.10:g.179167008T>A	NCBI36
NG_011618.3:g.241768A>T , LRG_391:g.241768A>T
NG_051363.1:g.76209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.50654A>T (TTN)	ENSP00000343764.6:p.Asp16885Val
ENST00000342175.11:c.31739A>T (TTN)	ENSP00000340554.6:p.Asp10580Val
ENST00000359218.10:c.31538A>T (TTN)	ENSP00000352154.5:p.Asp10513Val
ENST00000342175.10:c.31739A>T (TTN)	ENSP00000340554.6:p.Asp10580Val
ENST00000342992.10:c.50654A>T (TTN)	ENSP00000343764.6:p.Asp16885Val
ENST00000359218.9:c.31538A>T (TTN)	ENSP00000352154.5:p.Asp10513Val
ENST00000460472.6:c.31163A>T (TTN)	ENSP00000434586.1:p.Asp10388Val
ENST00000589042.5:c.58358A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp19453Val
ENST00000591111.5:c.53435A>T (TTN)	ENSP00000465570.1:p.Asp17812Val
ENST00000615779.4:c.53435A>T (TTN)	ENSP00000483597.1:p.Asp17812Val
NM_001256850.1:c.53435A>T (TTN)	NP_001243779.1:p.Asp17812Val
NM_001267550.2:c.58358A>T (TTN) MANE Select	NP_001254479.2:p.Asp19453Val
NM_003319.4:c.31163A>T (TTN)	NP_003310.4:p.Asp10388Val
NM_133378.4:c.50654A>T (TTN)	NP_596869.4:p.Asp16885Val
NM_133432.3:c.31538A>T (TTN)	NP_597676.3:p.Asp10513Val
NM_133437.4:c.31739A>T (TTN)	NP_597681.4:p.Asp10580Val
NR_038271.1:n.597-3561T>A (TTN-AS1)
NR_038272.1:n.3364+2721T>A (TTN-AS1)
XM_011511729.1:c.57455A>T (TTN)	XP_011510031.1:p.Asp19152Val
XM_011511730.1:c.31349A>T (TTN)	XP_011510032.1:p.Asp10450Val
XM_011511731.1:c.31208A>T (TTN)	XP_011510033.1:p.Asp10403Val
XM_017004819.1:c.57251A>T (TTN)	XP_016860308.1:p.Asp19084Val
XM_017004820.1:c.52649A>T (TTN)	XP_016860309.1:p.Asp17550Val
XM_017004821.1:c.52646A>T (TTN)	XP_016860310.1:p.Asp17549Val
XM_017004822.1:c.49688A>T (TTN)	XP_016860311.1:p.Asp16563Val
XM_017004823.1:c.31304A>T (TTN)	XP_016860312.1:p.Asp10435Val
XM_024453094.1:c.52799A>T (TTN)	XP_024308862.1:p.Asp17600Val
XM_024453095.1:c.52796A>T (TTN)	XP_024308863.1:p.Asp17599Val
XM_024453096.1:c.52229A>T (TTN)	XP_024308864.1:p.Asp17410Val
XM_024453097.1:c.49571A>T (TTN)	XP_024308865.1:p.Asp16524Val
XM_024453098.1:c.49490A>T (TTN)	XP_024308866.1:p.Asp16497Val
XM_024453099.1:c.31253A>T (TTN)	XP_024308867.1:p.Asp10418Val
XM_024453100.1:c.21107A>T (TTN)	XP_024308868.1:p.Asp7036Val