Canonical Allele Identifier: CA349489102

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM1010592 ; COSM1010594 ; COSM1010595 ; COSM1590912
• MyVariant Identifiers: chr2:g.179413390C>A (hg19) ; chr2:g.178548663C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548663C>A , CM000664.2:g.178548663C>A	GRCh38
NC_000002.11:g.179413390C>A , CM000664.1:g.179413390C>A	GRCh37
NC_000002.10:g.179121636C>A	NCBI36
NG_011618.3:g.287140G>T , LRG_391:g.287140G>T
NG_051363.1:g.30837C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85259G>T (TTN)	ENSP00000343764.6:p.Arg28420Ile
ENST00000342175.11:c.66344G>T (TTN)	ENSP00000340554.6:p.Arg22115Ile
ENST00000359218.10:c.66143G>T (TTN)	ENSP00000352154.5:p.Arg22048Ile
ENST00000342175.10:c.66344G>T (TTN)	ENSP00000340554.6:p.Arg22115Ile
ENST00000342992.10:c.85259G>T (TTN)	ENSP00000343764.6:p.Arg28420Ile
ENST00000359218.9:c.66143G>T (TTN)	ENSP00000352154.5:p.Arg22048Ile
ENST00000460472.6:c.65768G>T (TTN)	ENSP00000434586.1:p.Arg21923Ile
ENST00000589042.5:c.92963G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg30988Ile
ENST00000591111.5:c.88040G>T (TTN)	ENSP00000465570.1:p.Arg29347Ile
ENST00000615779.4:c.88040G>T (TTN)	ENSP00000483597.1:p.Arg29347Ile
NM_001256850.1:c.88040G>T (TTN)	NP_001243779.1:p.Arg29347Ile
NM_001267550.2:c.92963G>T (TTN) MANE Select	NP_001254479.2:p.Arg30988Ile
NM_003319.4:c.65768G>T (TTN)	NP_003310.4:p.Arg21923Ile
NM_133378.4:c.85259G>T (TTN)	NP_596869.4:p.Arg28420Ile
NM_133432.3:c.66143G>T (TTN)	NP_597676.3:p.Arg22048Ile
NM_133437.4:c.66344G>T (TTN)	NP_597681.4:p.Arg22115Ile
NR_038271.1:n.447-22637C>A (TTN-AS1)
NR_038272.1:n.2043+6302C>A (TTN-AS1)
XM_011511729.1:c.92060G>T (TTN)	XP_011510031.1:p.Arg30687Ile
XM_011511730.1:c.65954G>T (TTN)	XP_011510032.1:p.Arg21985Ile
XM_011511731.1:c.65813G>T (TTN)	XP_011510033.1:p.Arg21938Ile
XM_017004819.1:c.91856G>T (TTN)	XP_016860308.1:p.Arg30619Ile
XM_017004820.1:c.87254G>T (TTN)	XP_016860309.1:p.Arg29085Ile
XM_017004821.1:c.87251G>T (TTN)	XP_016860310.1:p.Arg29084Ile
XM_017004822.1:c.84293G>T (TTN)	XP_016860311.1:p.Arg28098Ile
XM_017004823.1:c.65909G>T (TTN)	XP_016860312.1:p.Arg21970Ile
XM_024453094.1:c.87404G>T (TTN)	XP_024308862.1:p.Arg29135Ile
XM_024453095.1:c.87401G>T (TTN)	XP_024308863.1:p.Arg29134Ile
XM_024453096.1:c.86834G>T (TTN)	XP_024308864.1:p.Arg28945Ile
XM_024453097.1:c.84176G>T (TTN)	XP_024308865.1:p.Arg28059Ile
XM_024453098.1:c.84095G>T (TTN)	XP_024308866.1:p.Arg28032Ile
XM_024453099.1:c.65858G>T (TTN)	XP_024308867.1:p.Arg21953Ile
XM_024453100.1:c.55712G>T (TTN)	XP_024308868.1:p.Arg18571Ile