Canonical Allele Identifier: CA349489453

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592056G>A , CM000664.2:g.178592056G>A	GRCh38
NC_000002.11:g.179456783G>A , CM000664.1:g.179456783G>A	GRCh37
NC_000002.10:g.179165029G>A	NCBI36
NG_011618.3:g.243747C>T , LRG_391:g.243747C>T
NG_051363.1:g.74230G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.59848C>T (TTN) MANE Select	NP_001254479.2:p.Arg19950Ter
ENST00000589042.5:c.59848C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg19950Ter
NM_001256850.1:c.54925C>T (TTN)	NP_001243779.1:p.Arg18309Ter
NM_003319.4:c.32653C>T (TTN)	NP_003310.4:p.Arg10885Ter
NM_133378.4:c.52144C>T (TTN)	NP_596869.4:p.Arg17382Ter
NM_133432.3:c.33028C>T (TTN)	NP_597676.3:p.Arg11010Ter
NM_133437.4:c.33229C>T (TTN)	NP_597681.4:p.Arg11077Ter
NR_038271.1:n.597-5540G>A (TTN-AS1)
NR_038272.1:n.3364+742G>A (TTN-AS1)
ENST00000342175.10:c.33229C>T (TTN)	ENSP00000340554.6:p.Arg11077Ter
ENST00000342175.11:c.33229C>T (TTN)	ENSP00000340554.6:p.Arg11077Ter
ENST00000342992.10:c.52144C>T (TTN)	ENSP00000343764.6:p.Arg17382Ter
ENST00000342992.11:c.52144C>T (TTN)	ENSP00000343764.6:p.Arg17382Ter
ENST00000359218.10:c.33028C>T (TTN)	ENSP00000352154.5:p.Arg11010Ter
ENST00000359218.9:c.33028C>T (TTN)	ENSP00000352154.5:p.Arg11010Ter
ENST00000460472.6:c.32653C>T (TTN)	ENSP00000434586.1:p.Arg10885Ter
ENST00000591111.5:c.54925C>T (TTN)	ENSP00000465570.1:p.Arg18309Ter
ENST00000615779.4:c.54925C>T (TTN)	ENSP00000483597.1:p.Arg18309Ter
XM_011511729.1:c.58945C>T (TTN)	XP_011510031.1:p.Arg19649Ter
XM_011511730.1:c.32839C>T (TTN)	XP_011510032.1:p.Arg10947Ter
XM_011511731.1:c.32698C>T (TTN)	XP_011510033.1:p.Arg10900Ter
XM_017004819.1:c.58741C>T (TTN)	XP_016860308.1:p.Arg19581Ter
XM_017004820.1:c.54139C>T (TTN)	XP_016860309.1:p.Arg18047Ter
XM_017004821.1:c.54136C>T (TTN)	XP_016860310.1:p.Arg18046Ter
XM_017004822.1:c.51178C>T (TTN)	XP_016860311.1:p.Arg17060Ter
XM_017004823.1:c.32794C>T (TTN)	XP_016860312.1:p.Arg10932Ter
XM_024453094.1:c.54289C>T (TTN)	XP_024308862.1:p.Arg18097Ter
XM_024453095.1:c.54286C>T (TTN)	XP_024308863.1:p.Arg18096Ter
XM_024453096.1:c.53719C>T (TTN)	XP_024308864.1:p.Arg17907Ter
XM_024453097.1:c.51061C>T (TTN)	XP_024308865.1:p.Arg17021Ter
XM_024453098.1:c.50980C>T (TTN)	XP_024308866.1:p.Arg16994Ter
XM_024453099.1:c.32743C>T (TTN)	XP_024308867.1:p.Arg10915Ter
XM_024453100.1:c.22597C>T (TTN)	XP_024308868.1:p.Arg7533Ter