Canonical Allele Identifier: CA1992197

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589074C>A , CM000664.2:g.178589074C>A	GRCh38
NC_000002.11:g.179453801C>A , CM000664.1:g.179453801C>A	GRCh37
NC_000002.10:g.179162047C>A	NCBI36
NG_011618.3:g.246729G>T , LRG_391:g.246729G>T
NG_051363.1:g.71248C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.62651G>T (TTN) MANE Select	NP_001254479.2:p.Cys20884Phe
ENST00000589042.5:c.62651G>T (TTN) MANE Select	ENSP00000467141.1:p.Cys20884Phe
NM_001256850.1:c.57728G>T (TTN)	NP_001243779.1:p.Cys19243Phe
NM_003319.4:c.35456G>T (TTN)	NP_003310.4:p.Cys11819Phe
NM_133378.4:c.54947G>T (TTN)	NP_596869.4:p.Cys18316Phe
NM_133432.3:c.35831G>T (TTN)	NP_597676.3:p.Cys11944Phe
NM_133437.4:c.36032G>T (TTN)	NP_597681.4:p.Cys12011Phe
NR_038271.1:n.597-8522C>A (TTN-AS1)
NR_038272.1:n.3189-2065C>A (TTN-AS1)
ENST00000342175.10:c.36032G>T (TTN)	ENSP00000340554.6:p.Cys12011Phe
ENST00000342175.11:c.36032G>T (TTN)	ENSP00000340554.6:p.Cys12011Phe
ENST00000342992.10:c.54947G>T (TTN)	ENSP00000343764.6:p.Cys18316Phe
ENST00000342992.11:c.54947G>T (TTN)	ENSP00000343764.6:p.Cys18316Phe
ENST00000359218.10:c.35831G>T (TTN)	ENSP00000352154.5:p.Cys11944Phe
ENST00000359218.9:c.35831G>T (TTN)	ENSP00000352154.5:p.Cys11944Phe
ENST00000460472.6:c.35456G>T (TTN)	ENSP00000434586.1:p.Cys11819Phe
ENST00000591111.5:c.57728G>T (TTN)	ENSP00000465570.1:p.Cys19243Phe
ENST00000615779.4:c.57728G>T (TTN)	ENSP00000483597.1:p.Cys19243Phe
XM_011511729.1:c.61748G>T (TTN)	XP_011510031.1:p.Cys20583Phe
XM_011511730.1:c.35642G>T (TTN)	XP_011510032.1:p.Cys11881Phe
XM_011511731.1:c.35501G>T (TTN)	XP_011510033.1:p.Cys11834Phe
XM_017004819.1:c.61544G>T (TTN)	XP_016860308.1:p.Cys20515Phe
XM_017004820.1:c.56942G>T (TTN)	XP_016860309.1:p.Cys18981Phe
XM_017004821.1:c.56939G>T (TTN)	XP_016860310.1:p.Cys18980Phe
XM_017004822.1:c.53981G>T (TTN)	XP_016860311.1:p.Cys17994Phe
XM_017004823.1:c.35597G>T (TTN)	XP_016860312.1:p.Cys11866Phe
XM_024453094.1:c.57092G>T (TTN)	XP_024308862.1:p.Cys19031Phe
XM_024453095.1:c.57089G>T (TTN)	XP_024308863.1:p.Cys19030Phe
XM_024453096.1:c.56522G>T (TTN)	XP_024308864.1:p.Cys18841Phe
XM_024453097.1:c.53864G>T (TTN)	XP_024308865.1:p.Cys17955Phe
XM_024453098.1:c.53783G>T (TTN)	XP_024308866.1:p.Cys17928Phe
XM_024453099.1:c.35546G>T (TTN)	XP_024308867.1:p.Cys11849Phe
XM_024453100.1:c.25400G>T (TTN)	XP_024308868.1:p.Cys8467Phe