Canonical Allele Identifier: CA349579594

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609439C>A , CM000664.2:g.178609439C>A	GRCh38
NC_000002.11:g.179474166C>A , CM000664.1:g.179474166C>A	GRCh37
NC_000002.10:g.179182411C>A	NCBI36
NG_011618.3:g.226364G>T , LRG_391:g.226364G>T
NG_051363.1:g.91613C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.51871G>T (TTN) MANE Select	NP_001254479.2:p.Glu17291Ter
ENST00000589042.5:c.51871G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu17291Ter
NM_001256850.1:c.46948G>T (TTN)	NP_001243779.1:p.Glu15650Ter
NM_003319.4:c.24676G>T (TTN)	NP_003310.4:p.Glu8226Ter
NM_133378.4:c.44167G>T (TTN)	NP_596869.4:p.Glu14723Ter
NM_133432.3:c.25051G>T (TTN)	NP_597676.3:p.Glu8351Ter
NM_133437.4:c.25252G>T (TTN)	NP_597681.4:p.Glu8418Ter
NR_038271.1:n.782+1173C>A (TTN-AS1)
ENST00000342175.10:c.25252G>T (TTN)	ENSP00000340554.6:p.Glu8418Ter
ENST00000342175.11:c.25252G>T (TTN)	ENSP00000340554.6:p.Glu8418Ter
ENST00000342992.10:c.44167G>T (TTN)	ENSP00000343764.6:p.Glu14723Ter
ENST00000342992.11:c.44167G>T (TTN)	ENSP00000343764.6:p.Glu14723Ter
ENST00000359218.10:c.25051G>T (TTN)	ENSP00000352154.5:p.Glu8351Ter
ENST00000359218.9:c.25051G>T (TTN)	ENSP00000352154.5:p.Glu8351Ter
ENST00000460472.6:c.24676G>T (TTN)	ENSP00000434586.1:p.Glu8226Ter
ENST00000591111.5:c.46948G>T (TTN)	ENSP00000465570.1:p.Glu15650Ter
ENST00000615779.4:c.46948G>T (TTN)	ENSP00000483597.1:p.Glu15650Ter
XM_011511729.1:c.50968G>T (TTN)	XP_011510031.1:p.Glu16990Ter
XM_011511730.1:c.24862G>T (TTN)	XP_011510032.1:p.Glu8288Ter
XM_011511731.1:c.24721G>T (TTN)	XP_011510033.1:p.Glu8241Ter
XM_017004819.1:c.50764G>T (TTN)	XP_016860308.1:p.Glu16922Ter
XM_017004820.1:c.46162G>T (TTN)	XP_016860309.1:p.Glu15388Ter
XM_017004821.1:c.46159G>T (TTN)	XP_016860310.1:p.Glu15387Ter
XM_017004822.1:c.43201G>T (TTN)	XP_016860311.1:p.Glu14401Ter
XM_017004823.1:c.24817G>T (TTN)	XP_016860312.1:p.Glu8273Ter
XM_024453094.1:c.46312G>T (TTN)	XP_024308862.1:p.Glu15438Ter
XM_024453095.1:c.46309G>T (TTN)	XP_024308863.1:p.Glu15437Ter
XM_024453096.1:c.45742G>T (TTN)	XP_024308864.1:p.Glu15248Ter
XM_024453097.1:c.43084G>T (TTN)	XP_024308865.1:p.Glu14362Ter
XM_024453098.1:c.43003G>T (TTN)	XP_024308866.1:p.Glu14335Ter
XM_024453099.1:c.24766G>T (TTN)	XP_024308867.1:p.Glu8256Ter
XM_024453100.1:c.14620G>T (TTN)	XP_024308868.1:p.Glu4874Ter