Canonical Allele Identifier: CA349451089

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408641C>A (hg19) ; chr2:g.178543914C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543914C>A , CM000664.2:g.178543914C>A	GRCh38
NC_000002.11:g.179408641C>A , CM000664.1:g.179408641C>A	GRCh37
NC_000002.10:g.179116887C>A	NCBI36
NG_011618.3:g.291889G>T , LRG_391:g.291889G>T
NG_051363.1:g.26088C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88526G>T (TTN)	ENSP00000343764.6:p.Arg29509Leu
ENST00000342175.11:c.69611G>T (TTN)	ENSP00000340554.6:p.Arg23204Leu
ENST00000359218.10:c.69410G>T (TTN)	ENSP00000352154.5:p.Arg23137Leu
ENST00000342175.10:c.69611G>T (TTN)	ENSP00000340554.6:p.Arg23204Leu
ENST00000342992.10:c.88526G>T (TTN)	ENSP00000343764.6:p.Arg29509Leu
ENST00000359218.9:c.69410G>T (TTN)	ENSP00000352154.5:p.Arg23137Leu
ENST00000460472.6:c.69035G>T (TTN)	ENSP00000434586.1:p.Arg23012Leu
ENST00000589042.5:c.96230G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg32077Leu
ENST00000591111.5:c.91307G>T (TTN)	ENSP00000465570.1:p.Arg30436Leu
ENST00000615779.4:c.91307G>T (TTN)	ENSP00000483597.1:p.Arg30436Leu
NM_001256850.1:c.91307G>T (TTN)	NP_001243779.1:p.Arg30436Leu
NM_001267550.2:c.96230G>T (TTN) MANE Select	NP_001254479.2:p.Arg32077Leu
NM_003319.4:c.69035G>T (TTN)	NP_003310.4:p.Arg23012Leu
NM_133378.4:c.88526G>T (TTN)	NP_596869.4:p.Arg29509Leu
NM_133432.3:c.69410G>T (TTN)	NP_597676.3:p.Arg23137Leu
NM_133437.4:c.69611G>T (TTN)	NP_597681.4:p.Arg23204Leu
NR_038271.1:n.446+20278C>A (TTN-AS1)
NR_038272.1:n.2043+1553C>A (TTN-AS1)
XM_011511729.1:c.95327G>T (TTN)	XP_011510031.1:p.Arg31776Leu
XM_011511730.1:c.69221G>T (TTN)	XP_011510032.1:p.Arg23074Leu
XM_011511731.1:c.69080G>T (TTN)	XP_011510033.1:p.Arg23027Leu
XM_017004819.1:c.95123G>T (TTN)	XP_016860308.1:p.Arg31708Leu
XM_017004820.1:c.90521G>T (TTN)	XP_016860309.1:p.Arg30174Leu
XM_017004821.1:c.90518G>T (TTN)	XP_016860310.1:p.Arg30173Leu
XM_017004822.1:c.87560G>T (TTN)	XP_016860311.1:p.Arg29187Leu
XM_017004823.1:c.69176G>T (TTN)	XP_016860312.1:p.Arg23059Leu
XM_024453094.1:c.90671G>T (TTN)	XP_024308862.1:p.Arg30224Leu
XM_024453095.1:c.90668G>T (TTN)	XP_024308863.1:p.Arg30223Leu
XM_024453096.1:c.90101G>T (TTN)	XP_024308864.1:p.Arg30034Leu
XM_024453097.1:c.87443G>T (TTN)	XP_024308865.1:p.Arg29148Leu
XM_024453098.1:c.87362G>T (TTN)	XP_024308866.1:p.Arg29121Leu
XM_024453099.1:c.69125G>T (TTN)	XP_024308867.1:p.Arg23042Leu
XM_024453100.1:c.58979G>T (TTN)	XP_024308868.1:p.Arg19660Leu