Canonical Allele Identifier: CA349496821

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457807T>A (hg19) ; chr2:g.178593080T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593080T>A , CM000664.2:g.178593080T>A	GRCh38
NC_000002.11:g.179457807T>A , CM000664.1:g.179457807T>A	GRCh37
NC_000002.10:g.179166053T>A	NCBI36
NG_011618.3:g.242723A>T , LRG_391:g.242723A>T
NG_051363.1:g.75254T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51335A>T (TTN)	ENSP00000343764.6:p.Lys17112Ile
ENST00000342175.11:c.32420A>T (TTN)	ENSP00000340554.6:p.Lys10807Ile
ENST00000359218.10:c.32219A>T (TTN)	ENSP00000352154.5:p.Lys10740Ile
ENST00000342175.10:c.32420A>T (TTN)	ENSP00000340554.6:p.Lys10807Ile
ENST00000342992.10:c.51335A>T (TTN)	ENSP00000343764.6:p.Lys17112Ile
ENST00000359218.9:c.32219A>T (TTN)	ENSP00000352154.5:p.Lys10740Ile
ENST00000460472.6:c.31844A>T (TTN)	ENSP00000434586.1:p.Lys10615Ile
ENST00000589042.5:c.59039A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys19680Ile
ENST00000591111.5:c.54116A>T (TTN)	ENSP00000465570.1:p.Lys18039Ile
ENST00000615779.4:c.54116A>T (TTN)	ENSP00000483597.1:p.Lys18039Ile
NM_001256850.1:c.54116A>T (TTN)	NP_001243779.1:p.Lys18039Ile
NM_001267550.2:c.59039A>T (TTN) MANE Select	NP_001254479.2:p.Lys19680Ile
NM_003319.4:c.31844A>T (TTN)	NP_003310.4:p.Lys10615Ile
NM_133378.4:c.51335A>T (TTN)	NP_596869.4:p.Lys17112Ile
NM_133432.3:c.32219A>T (TTN)	NP_597676.3:p.Lys10740Ile
NM_133437.4:c.32420A>T (TTN)	NP_597681.4:p.Lys10807Ile
NR_038271.1:n.597-4516T>A (TTN-AS1)
NR_038272.1:n.3364+1766T>A (TTN-AS1)
XM_011511729.1:c.58136A>T (TTN)	XP_011510031.1:p.Lys19379Ile
XM_011511730.1:c.32030A>T (TTN)	XP_011510032.1:p.Lys10677Ile
XM_011511731.1:c.31889A>T (TTN)	XP_011510033.1:p.Lys10630Ile
XM_017004819.1:c.57932A>T (TTN)	XP_016860308.1:p.Lys19311Ile
XM_017004820.1:c.53330A>T (TTN)	XP_016860309.1:p.Lys17777Ile
XM_017004821.1:c.53327A>T (TTN)	XP_016860310.1:p.Lys17776Ile
XM_017004822.1:c.50369A>T (TTN)	XP_016860311.1:p.Lys16790Ile
XM_017004823.1:c.31985A>T (TTN)	XP_016860312.1:p.Lys10662Ile
XM_024453094.1:c.53480A>T (TTN)	XP_024308862.1:p.Lys17827Ile
XM_024453095.1:c.53477A>T (TTN)	XP_024308863.1:p.Lys17826Ile
XM_024453096.1:c.52910A>T (TTN)	XP_024308864.1:p.Lys17637Ile
XM_024453097.1:c.50252A>T (TTN)	XP_024308865.1:p.Lys16751Ile
XM_024453098.1:c.50171A>T (TTN)	XP_024308866.1:p.Lys16724Ile
XM_024453099.1:c.31934A>T (TTN)	XP_024308867.1:p.Lys10645Ile
XM_024453100.1:c.21788A>T (TTN)	XP_024308868.1:p.Lys7263Ile