Canonical Allele Identifier: CA349594225

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566415C>A , CM000664.2:g.178566415C>A	GRCh38
NC_000002.11:g.179431142C>A , CM000664.1:g.179431142C>A	GRCh37
NC_000002.10:g.179139388C>A	NCBI36
NG_011618.3:g.269388G>T , LRG_391:g.269388G>T
NG_051363.1:g.48589C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.79717G>T (TTN) MANE Select	NP_001254479.2:p.Glu26573Ter
ENST00000589042.5:c.79717G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu26573Ter
NM_001256850.1:c.74794G>T (TTN)	NP_001243779.1:p.Glu24932Ter
NM_003319.4:c.52522G>T (TTN)	NP_003310.4:p.Glu17508Ter
NM_133378.4:c.72013G>T (TTN)	NP_596869.4:p.Glu24005Ter
NM_133432.3:c.52897G>T (TTN)	NP_597676.3:p.Glu17633Ter
NM_133437.4:c.53098G>T (TTN)	NP_597681.4:p.Glu17700Ter
NR_038271.1:n.447-4885C>A (TTN-AS1)
NR_038272.1:n.2044-16157C>A (TTN-AS1)
ENST00000342175.10:c.53098G>T (TTN)	ENSP00000340554.6:p.Glu17700Ter
ENST00000342175.11:c.53098G>T (TTN)	ENSP00000340554.6:p.Glu17700Ter
ENST00000342992.10:c.72013G>T (TTN)	ENSP00000343764.6:p.Glu24005Ter
ENST00000342992.11:c.72013G>T (TTN)	ENSP00000343764.6:p.Glu24005Ter
ENST00000359218.10:c.52897G>T (TTN)	ENSP00000352154.5:p.Glu17633Ter
ENST00000359218.9:c.52897G>T (TTN)	ENSP00000352154.5:p.Glu17633Ter
ENST00000460472.6:c.52522G>T (TTN)	ENSP00000434586.1:p.Glu17508Ter
ENST00000591111.5:c.74794G>T (TTN)	ENSP00000465570.1:p.Glu24932Ter
ENST00000615779.4:c.74794G>T (TTN)	ENSP00000483597.1:p.Glu24932Ter
XM_011511729.1:c.78814G>T (TTN)	XP_011510031.1:p.Glu26272Ter
XM_011511730.1:c.52708G>T (TTN)	XP_011510032.1:p.Glu17570Ter
XM_011511731.1:c.52567G>T (TTN)	XP_011510033.1:p.Glu17523Ter
XM_017004819.1:c.78610G>T (TTN)	XP_016860308.1:p.Glu26204Ter
XM_017004820.1:c.74008G>T (TTN)	XP_016860309.1:p.Glu24670Ter
XM_017004821.1:c.74005G>T (TTN)	XP_016860310.1:p.Glu24669Ter
XM_017004822.1:c.71047G>T (TTN)	XP_016860311.1:p.Glu23683Ter
XM_017004823.1:c.52663G>T (TTN)	XP_016860312.1:p.Glu17555Ter
XM_024453094.1:c.74158G>T (TTN)	XP_024308862.1:p.Glu24720Ter
XM_024453095.1:c.74155G>T (TTN)	XP_024308863.1:p.Glu24719Ter
XM_024453096.1:c.73588G>T (TTN)	XP_024308864.1:p.Glu24530Ter
XM_024453097.1:c.70930G>T (TTN)	XP_024308865.1:p.Glu23644Ter
XM_024453098.1:c.70849G>T (TTN)	XP_024308866.1:p.Glu23617Ter
XM_024453099.1:c.52612G>T (TTN)	XP_024308867.1:p.Glu17538Ter
XM_024453100.1:c.42466G>T (TTN)	XP_024308868.1:p.Glu14156Ter