Canonical Allele Identifier: CA349583499

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609774C>A , CM000664.2:g.178609774C>A	GRCh38
NC_000002.11:g.179474501C>A , CM000664.1:g.179474501C>A	GRCh37
NC_000002.10:g.179182746C>A	NCBI36
NG_011618.3:g.226029G>T , LRG_391:g.226029G>T
NG_051363.1:g.91948C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.51649G>T (TTN) MANE Select	NP_001254479.2:p.Glu17217Ter
ENST00000589042.5:c.51649G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu17217Ter
NM_001256850.1:c.46726G>T (TTN)	NP_001243779.1:p.Glu15576Ter
NM_003319.4:c.24454G>T (TTN)	NP_003310.4:p.Glu8152Ter
NM_133378.4:c.43945G>T (TTN)	NP_596869.4:p.Glu14649Ter
NM_133432.3:c.24829G>T (TTN)	NP_597676.3:p.Glu8277Ter
NM_133437.4:c.25030G>T (TTN)	NP_597681.4:p.Glu8344Ter
NR_038271.1:n.782+1508C>A (TTN-AS1)
ENST00000342175.10:c.25030G>T (TTN)	ENSP00000340554.6:p.Glu8344Ter
ENST00000342175.11:c.25030G>T (TTN)	ENSP00000340554.6:p.Glu8344Ter
ENST00000342992.10:c.43945G>T (TTN)	ENSP00000343764.6:p.Glu14649Ter
ENST00000342992.11:c.43945G>T (TTN)	ENSP00000343764.6:p.Glu14649Ter
ENST00000359218.10:c.24829G>T (TTN)	ENSP00000352154.5:p.Glu8277Ter
ENST00000359218.9:c.24829G>T (TTN)	ENSP00000352154.5:p.Glu8277Ter
ENST00000460472.6:c.24454G>T (TTN)	ENSP00000434586.1:p.Glu8152Ter
ENST00000591111.5:c.46726G>T (TTN)	ENSP00000465570.1:p.Glu15576Ter
ENST00000615779.4:c.46726G>T (TTN)	ENSP00000483597.1:p.Glu15576Ter
XM_011511729.1:c.50746G>T (TTN)	XP_011510031.1:p.Glu16916Ter
XM_011511730.1:c.24640G>T (TTN)	XP_011510032.1:p.Glu8214Ter
XM_011511731.1:c.24499G>T (TTN)	XP_011510033.1:p.Glu8167Ter
XM_017004819.1:c.50542G>T (TTN)	XP_016860308.1:p.Glu16848Ter
XM_017004820.1:c.45940G>T (TTN)	XP_016860309.1:p.Glu15314Ter
XM_017004821.1:c.45937G>T (TTN)	XP_016860310.1:p.Glu15313Ter
XM_017004822.1:c.42979G>T (TTN)	XP_016860311.1:p.Glu14327Ter
XM_017004823.1:c.24595G>T (TTN)	XP_016860312.1:p.Glu8199Ter
XM_024453094.1:c.46090G>T (TTN)	XP_024308862.1:p.Glu15364Ter
XM_024453095.1:c.46087G>T (TTN)	XP_024308863.1:p.Glu15363Ter
XM_024453096.1:c.45520G>T (TTN)	XP_024308864.1:p.Glu15174Ter
XM_024453097.1:c.42862G>T (TTN)	XP_024308865.1:p.Glu14288Ter
XM_024453098.1:c.42781G>T (TTN)	XP_024308866.1:p.Glu14261Ter
XM_024453099.1:c.24544G>T (TTN)	XP_024308867.1:p.Glu8182Ter
XM_024453100.1:c.14398G>T (TTN)	XP_024308868.1:p.Glu4800Ter