Canonical Allele Identifier: CA1987643

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551188C>T , CM000664.2:g.178551188C>T	GRCh38
NC_000002.11:g.179415915C>T , CM000664.1:g.179415915C>T	GRCh37
NC_000002.10:g.179124161C>T	NCBI36
NG_011618.3:g.284615G>A , LRG_391:g.284615G>A
NG_051363.1:g.33362C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.91343G>A (TTN) MANE Select	NP_001254479.2:p.Arg30448His
ENST00000589042.5:c.91343G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg30448His
NM_001256850.1:c.86420G>A (TTN)	NP_001243779.1:p.Arg28807His
NM_003319.4:c.64148G>A (TTN)	NP_003310.4:p.Arg21383His
NM_133378.4:c.83639G>A (TTN)	NP_596869.4:p.Arg27880His
NM_133432.3:c.64523G>A (TTN)	NP_597676.3:p.Arg21508His
NM_133437.4:c.64724G>A (TTN)	NP_597681.4:p.Arg21575His
NR_038271.1:n.447-20112C>T (TTN-AS1)
NR_038272.1:n.2043+8827C>T (TTN-AS1)
ENST00000342175.10:c.64724G>A (TTN)	ENSP00000340554.6:p.Arg21575His
ENST00000342175.11:c.64724G>A (TTN)	ENSP00000340554.6:p.Arg21575His
ENST00000342992.10:c.83639G>A (TTN)	ENSP00000343764.6:p.Arg27880His
ENST00000342992.11:c.83639G>A (TTN)	ENSP00000343764.6:p.Arg27880His
ENST00000359218.10:c.64523G>A (TTN)	ENSP00000352154.5:p.Arg21508His
ENST00000359218.9:c.64523G>A (TTN)	ENSP00000352154.5:p.Arg21508His
ENST00000460472.6:c.64148G>A (TTN)	ENSP00000434586.1:p.Arg21383His
ENST00000591111.5:c.86420G>A (TTN)	ENSP00000465570.1:p.Arg28807His
ENST00000615779.4:c.86420G>A (TTN)	ENSP00000483597.1:p.Arg28807His
XM_011511729.1:c.90440G>A (TTN)	XP_011510031.1:p.Arg30147His
XM_011511730.1:c.64334G>A (TTN)	XP_011510032.1:p.Arg21445His
XM_011511731.1:c.64193G>A (TTN)	XP_011510033.1:p.Arg21398His
XM_017004819.1:c.90236G>A (TTN)	XP_016860308.1:p.Arg30079His
XM_017004820.1:c.85634G>A (TTN)	XP_016860309.1:p.Arg28545His
XM_017004821.1:c.85631G>A (TTN)	XP_016860310.1:p.Arg28544His
XM_017004822.1:c.82673G>A (TTN)	XP_016860311.1:p.Arg27558His
XM_017004823.1:c.64289G>A (TTN)	XP_016860312.1:p.Arg21430His
XM_024453094.1:c.85784G>A (TTN)	XP_024308862.1:p.Arg28595His
XM_024453095.1:c.85781G>A (TTN)	XP_024308863.1:p.Arg28594His
XM_024453096.1:c.85214G>A (TTN)	XP_024308864.1:p.Arg28405His
XM_024453097.1:c.82556G>A (TTN)	XP_024308865.1:p.Arg27519His
XM_024453098.1:c.82475G>A (TTN)	XP_024308866.1:p.Arg27492His
XM_024453099.1:c.64238G>A (TTN)	XP_024308867.1:p.Arg21413His
XM_024453100.1:c.54092G>A (TTN)	XP_024308868.1:p.Arg18031His