Canonical Allele Identifier: CA349636833

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178572340C>A , CM000664.2:g.178572340C>A	GRCh38
NC_000002.11:g.179437067C>A , CM000664.1:g.179437067C>A	GRCh37
NC_000002.10:g.179145313C>A	NCBI36
NG_011618.3:g.263463G>T , LRG_391:g.263463G>T
NG_051363.1:g.54514C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.73792G>T (TTN) MANE Select	NP_001254479.2:p.Glu24598Ter
ENST00000589042.5:c.73792G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu24598Ter
NM_001256850.1:c.68869G>T (TTN)	NP_001243779.1:p.Glu22957Ter
NM_003319.4:c.46597G>T (TTN)	NP_003310.4:p.Glu15533Ter
NM_133378.4:c.66088G>T (TTN)	NP_596869.4:p.Glu22030Ter
NM_133432.3:c.46972G>T (TTN)	NP_597676.3:p.Glu15658Ter
NM_133437.4:c.47173G>T (TTN)	NP_597681.4:p.Glu15725Ter
NR_038271.1:n.596+891C>A (TTN-AS1)
NR_038272.1:n.2044-10232C>A (TTN-AS1)
ENST00000342175.10:c.47173G>T (TTN)	ENSP00000340554.6:p.Glu15725Ter
ENST00000342175.11:c.47173G>T (TTN)	ENSP00000340554.6:p.Glu15725Ter
ENST00000342992.10:c.66088G>T (TTN)	ENSP00000343764.6:p.Glu22030Ter
ENST00000342992.11:c.66088G>T (TTN)	ENSP00000343764.6:p.Glu22030Ter
ENST00000359218.10:c.46972G>T (TTN)	ENSP00000352154.5:p.Glu15658Ter
ENST00000359218.9:c.46972G>T (TTN)	ENSP00000352154.5:p.Glu15658Ter
ENST00000460472.6:c.46597G>T (TTN)	ENSP00000434586.1:p.Glu15533Ter
ENST00000591111.5:c.68869G>T (TTN)	ENSP00000465570.1:p.Glu22957Ter
ENST00000615779.4:c.68869G>T (TTN)	ENSP00000483597.1:p.Glu22957Ter
XM_011511729.1:c.72889G>T (TTN)	XP_011510031.1:p.Glu24297Ter
XM_011511730.1:c.46783G>T (TTN)	XP_011510032.1:p.Glu15595Ter
XM_011511731.1:c.46642G>T (TTN)	XP_011510033.1:p.Glu15548Ter
XM_017004819.1:c.72685G>T (TTN)	XP_016860308.1:p.Glu24229Ter
XM_017004820.1:c.68083G>T (TTN)	XP_016860309.1:p.Glu22695Ter
XM_017004821.1:c.68080G>T (TTN)	XP_016860310.1:p.Glu22694Ter
XM_017004822.1:c.65122G>T (TTN)	XP_016860311.1:p.Glu21708Ter
XM_017004823.1:c.46738G>T (TTN)	XP_016860312.1:p.Glu15580Ter
XM_024453094.1:c.68233G>T (TTN)	XP_024308862.1:p.Glu22745Ter
XM_024453095.1:c.68230G>T (TTN)	XP_024308863.1:p.Glu22744Ter
XM_024453096.1:c.67663G>T (TTN)	XP_024308864.1:p.Glu22555Ter
XM_024453097.1:c.65005G>T (TTN)	XP_024308865.1:p.Glu21669Ter
XM_024453098.1:c.64924G>T (TTN)	XP_024308866.1:p.Glu21642Ter
XM_024453099.1:c.46687G>T (TTN)	XP_024308867.1:p.Glu15563Ter
XM_024453100.1:c.36541G>T (TTN)	XP_024308868.1:p.Glu12181Ter