Canonical Allele Identifier: CA349587968

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178610333T>A , CM000664.2:g.178610333T>A	GRCh38
NC_000002.11:g.179475060T>A , CM000664.1:g.179475060T>A	GRCh37
NC_000002.10:g.179183305T>A	NCBI36
NG_011618.3:g.225470A>T , LRG_391:g.225470A>T
NG_051363.1:g.92507T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.51193A>T (TTN) MANE Select	NP_001254479.2:p.Lys17065Ter
ENST00000589042.5:c.51193A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys17065Ter
NM_001256850.1:c.46270A>T (TTN)	NP_001243779.1:p.Lys15424Ter
NM_003319.4:c.23998A>T (TTN)	NP_003310.4:p.Lys8000Ter
NM_133378.4:c.43489A>T (TTN)	NP_596869.4:p.Lys14497Ter
NM_133432.3:c.24373A>T (TTN)	NP_597676.3:p.Lys8125Ter
NM_133437.4:c.24574A>T (TTN)	NP_597681.4:p.Lys8192Ter
NR_038271.1:n.782+2067T>A (TTN-AS1)
ENST00000342175.10:c.24574A>T (TTN)	ENSP00000340554.6:p.Lys8192Ter
ENST00000342175.11:c.24574A>T (TTN)	ENSP00000340554.6:p.Lys8192Ter
ENST00000342992.10:c.43489A>T (TTN)	ENSP00000343764.6:p.Lys14497Ter
ENST00000342992.11:c.43489A>T (TTN)	ENSP00000343764.6:p.Lys14497Ter
ENST00000359218.10:c.24373A>T (TTN)	ENSP00000352154.5:p.Lys8125Ter
ENST00000359218.9:c.24373A>T (TTN)	ENSP00000352154.5:p.Lys8125Ter
ENST00000460472.6:c.23998A>T (TTN)	ENSP00000434586.1:p.Lys8000Ter
ENST00000591111.5:c.46270A>T (TTN)	ENSP00000465570.1:p.Lys15424Ter
ENST00000615779.4:c.46270A>T (TTN)	ENSP00000483597.1:p.Lys15424Ter
XM_011511729.1:c.50290A>T (TTN)	XP_011510031.1:p.Lys16764Ter
XM_011511730.1:c.24184A>T (TTN)	XP_011510032.1:p.Lys8062Ter
XM_011511731.1:c.24043A>T (TTN)	XP_011510033.1:p.Lys8015Ter
XM_017004819.1:c.50086A>T (TTN)	XP_016860308.1:p.Lys16696Ter
XM_017004820.1:c.45484A>T (TTN)	XP_016860309.1:p.Lys15162Ter
XM_017004821.1:c.45481A>T (TTN)	XP_016860310.1:p.Lys15161Ter
XM_017004822.1:c.42523A>T (TTN)	XP_016860311.1:p.Lys14175Ter
XM_017004823.1:c.24139A>T (TTN)	XP_016860312.1:p.Lys8047Ter
XM_024453094.1:c.45634A>T (TTN)	XP_024308862.1:p.Lys15212Ter
XM_024453095.1:c.45631A>T (TTN)	XP_024308863.1:p.Lys15211Ter
XM_024453096.1:c.45064A>T (TTN)	XP_024308864.1:p.Lys15022Ter
XM_024453097.1:c.42406A>T (TTN)	XP_024308865.1:p.Lys14136Ter
XM_024453098.1:c.42325A>T (TTN)	XP_024308866.1:p.Lys14109Ter
XM_024453099.1:c.24088A>T (TTN)	XP_024308867.1:p.Lys8030Ter
XM_024453100.1:c.13942A>T (TTN)	XP_024308868.1:p.Lys4648Ter