Canonical Allele Identifier: CA1995958

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178633205C>T , CM000664.2:g.178633205C>T	GRCh38
NC_000002.11:g.179497932C>T , CM000664.1:g.179497932C>T	GRCh37
NC_000002.10:g.179206177C>T	NCBI36
NG_011618.3:g.202598G>A , LRG_391:g.202598G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.43068G>A MANE Select	NP_001254479.2:p.Gln14356=
ENST00000589042.5:c.43068G>A MANE Select	ENSP00000467141.1:p.Gln14356=
NM_001256850.1:c.38145G>A	NP_001243779.1:p.Gln12715=
NM_003319.4:c.15873G>A	NP_003310.4:p.Gln5291=
NM_133378.4:c.35364G>A	NP_596869.4:p.Gln11788=
NM_133432.3:c.16248G>A	NP_597676.3:p.Gln5416=
NM_133437.4:c.16449G>A	NP_597681.4:p.Gln5483=
ENST00000342175.10:c.16449G>A	ENSP00000340554.6:p.Gln5483=
ENST00000342175.11:c.16449G>A	ENSP00000340554.6:p.Gln5483=
ENST00000342992.10:c.35364G>A	ENSP00000343764.6:p.Gln11788=
ENST00000342992.11:c.35364G>A	ENSP00000343764.6:p.Gln11788=
ENST00000359218.10:c.16248G>A	ENSP00000352154.5:p.Gln5416=
ENST00000359218.9:c.16248G>A	ENSP00000352154.5:p.Gln5416=
ENST00000460472.6:c.15873G>A	ENSP00000434586.1:p.Gln5291=
ENST00000591111.5:c.38145G>A	ENSP00000465570.1:p.Gln12715=
ENST00000615779.4:c.38145G>A	ENSP00000483597.1:p.Gln12715=
XM_011511729.1:c.42165G>A	XP_011510031.1:p.Gln14055=
XM_011511730.1:c.16059G>A	XP_011510032.1:p.Gln5353=
XM_011511731.1:c.15918G>A	XP_011510033.1:p.Gln5306=
XM_017004819.1:c.41961G>A	XP_016860308.1:p.Gln13987=
XM_017004820.1:c.37359G>A	XP_016860309.1:p.Gln12453=
XM_017004821.1:c.37356G>A	XP_016860310.1:p.Gln12452=
XM_017004822.1:c.34398G>A	XP_016860311.1:p.Gln11466=
XM_017004823.1:c.16014G>A	XP_016860312.1:p.Gln5338=
XM_024453094.1:c.37509G>A	XP_024308862.1:p.Gln12503=
XM_024453095.1:c.37506G>A	XP_024308863.1:p.Gln12502=
XM_024453096.1:c.36939G>A	XP_024308864.1:p.Gln12313=
XM_024453097.1:c.34281G>A	XP_024308865.1:p.Gln11427=
XM_024453098.1:c.34200G>A	XP_024308866.1:p.Gln11400=
XM_024453099.1:c.15963G>A	XP_024308867.1:p.Gln5321=
XM_024453100.1:c.5817G>A	XP_024308868.1:p.Gln1939=