Canonical Allele Identifier: CA349652827

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574588A>T , CM000664.2:g.178574588A>T	GRCh38
NC_000002.11:g.179439315A>T , CM000664.1:g.179439315A>T	GRCh37
NC_000002.10:g.179147561A>T	NCBI36
NG_011618.3:g.261215T>A , LRG_391:g.261215T>A
NG_051363.1:g.56762A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.71544T>A (TTN) MANE Select	NP_001254479.2:p.His23848Gln
ENST00000589042.5:c.71544T>A (TTN) MANE Select	ENSP00000467141.1:p.His23848Gln
NM_001256850.1:c.66621T>A (TTN)	NP_001243779.1:p.His22207Gln
NM_003319.4:c.44349T>A (TTN)	NP_003310.4:p.His14783Gln
NM_133378.4:c.63840T>A (TTN)	NP_596869.4:p.His21280Gln
NM_133432.3:c.44724T>A (TTN)	NP_597676.3:p.His14908Gln
NM_133437.4:c.44925T>A (TTN)	NP_597681.4:p.His14975Gln
NR_038271.1:n.596+3139A>T (TTN-AS1)
NR_038272.1:n.2044-7984A>T (TTN-AS1)
ENST00000342175.10:c.44925T>A (TTN)	ENSP00000340554.6:p.His14975Gln
ENST00000342175.11:c.44925T>A (TTN)	ENSP00000340554.6:p.His14975Gln
ENST00000342992.10:c.63840T>A (TTN)	ENSP00000343764.6:p.His21280Gln
ENST00000342992.11:c.63840T>A (TTN)	ENSP00000343764.6:p.His21280Gln
ENST00000359218.10:c.44724T>A (TTN)	ENSP00000352154.5:p.His14908Gln
ENST00000359218.9:c.44724T>A (TTN)	ENSP00000352154.5:p.His14908Gln
ENST00000460472.6:c.44349T>A (TTN)	ENSP00000434586.1:p.His14783Gln
ENST00000591111.5:c.66621T>A (TTN)	ENSP00000465570.1:p.His22207Gln
ENST00000615779.4:c.66621T>A (TTN)	ENSP00000483597.1:p.His22207Gln
XM_011511729.1:c.70641T>A (TTN)	XP_011510031.1:p.His23547Gln
XM_011511730.1:c.44535T>A (TTN)	XP_011510032.1:p.His14845Gln
XM_011511731.1:c.44394T>A (TTN)	XP_011510033.1:p.His14798Gln
XM_017004819.1:c.70437T>A (TTN)	XP_016860308.1:p.His23479Gln
XM_017004820.1:c.65835T>A (TTN)	XP_016860309.1:p.His21945Gln
XM_017004821.1:c.65832T>A (TTN)	XP_016860310.1:p.His21944Gln
XM_017004822.1:c.62874T>A (TTN)	XP_016860311.1:p.His20958Gln
XM_017004823.1:c.44490T>A (TTN)	XP_016860312.1:p.His14830Gln
XM_024453094.1:c.65985T>A (TTN)	XP_024308862.1:p.His21995Gln
XM_024453095.1:c.65982T>A (TTN)	XP_024308863.1:p.His21994Gln
XM_024453096.1:c.65415T>A (TTN)	XP_024308864.1:p.His21805Gln
XM_024453097.1:c.62757T>A (TTN)	XP_024308865.1:p.His20919Gln
XM_024453098.1:c.62676T>A (TTN)	XP_024308866.1:p.His20892Gln
XM_024453099.1:c.44439T>A (TTN)	XP_024308867.1:p.His14813Gln
XM_024453100.1:c.34293T>A (TTN)	XP_024308868.1:p.His11431Gln