Canonical Allele Identifier: CA349411760

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396917C>A (hg19) ; chr2:g.178532190C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532190C>A , CM000664.2:g.178532190C>A	GRCh38
NC_000002.11:g.179396917C>A , CM000664.1:g.179396917C>A	GRCh37
NC_000002.10:g.179105163C>A	NCBI36
NG_011618.3:g.303613G>T , LRG_391:g.303613G>T
NG_051363.1:g.14364C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96721G>T (TTN)	ENSP00000343764.6:p.Val32241Leu
ENST00000342175.11:c.77806G>T (TTN)	ENSP00000340554.6:p.Val25936Leu
ENST00000359218.10:c.77605G>T (TTN)	ENSP00000352154.5:p.Val25869Leu
ENST00000342175.10:c.77806G>T (TTN)	ENSP00000340554.6:p.Val25936Leu
ENST00000342992.10:c.96721G>T (TTN)	ENSP00000343764.6:p.Val32241Leu
ENST00000359218.9:c.77605G>T (TTN)	ENSP00000352154.5:p.Val25869Leu
ENST00000460472.6:c.77230G>T (TTN)	ENSP00000434586.1:p.Val25744Leu
ENST00000589042.5:c.104425G>T (TTN) MANE Select	ENSP00000467141.1:p.Val34809Leu
ENST00000591111.5:c.99502G>T (TTN)	ENSP00000465570.1:p.Val33168Leu
ENST00000615779.4:c.99502G>T (TTN)	ENSP00000483597.1:p.Val33168Leu
NM_001256850.1:c.99502G>T (TTN)	NP_001243779.1:p.Val33168Leu
NM_001267550.2:c.104425G>T (TTN) MANE Select	NP_001254479.2:p.Val34809Leu
NM_003319.4:c.77230G>T (TTN)	NP_003310.4:p.Val25744Leu
NM_133378.4:c.96721G>T (TTN)	NP_596869.4:p.Val32241Leu
NM_133432.3:c.77605G>T (TTN)	NP_597676.3:p.Val25869Leu
NM_133437.4:c.77806G>T (TTN)	NP_597681.4:p.Val25936Leu
NR_038271.1:n.446+8554C>A (TTN-AS1)
NR_038272.1:n.220-3542C>A (TTN-AS1)
XM_011511729.1:c.103522G>T (TTN)	XP_011510031.1:p.Val34508Leu
XM_011511730.1:c.77416G>T (TTN)	XP_011510032.1:p.Val25806Leu
XM_011511731.1:c.77275G>T (TTN)	XP_011510033.1:p.Val25759Leu
XM_017004819.1:c.103318G>T (TTN)	XP_016860308.1:p.Val34440Leu
XM_017004820.1:c.98716G>T (TTN)	XP_016860309.1:p.Val32906Leu
XM_017004821.1:c.98713G>T (TTN)	XP_016860310.1:p.Val32905Leu
XM_017004822.1:c.95755G>T (TTN)	XP_016860311.1:p.Val31919Leu
XM_017004823.1:c.77371G>T (TTN)	XP_016860312.1:p.Val25791Leu
XM_024453094.1:c.98866G>T (TTN)	XP_024308862.1:p.Val32956Leu
XM_024453095.1:c.98863G>T (TTN)	XP_024308863.1:p.Val32955Leu
XM_024453096.1:c.98296G>T (TTN)	XP_024308864.1:p.Val32766Leu
XM_024453097.1:c.95638G>T (TTN)	XP_024308865.1:p.Val31880Leu
XM_024453098.1:c.95557G>T (TTN)	XP_024308866.1:p.Val31853Leu
XM_024453099.1:c.77320G>T (TTN)	XP_024308867.1:p.Val25774Leu
XM_024453100.1:c.67174G>T (TTN)	XP_024308868.1:p.Val22392Leu