Canonical Allele Identifier: CA349647954

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573905A>T , CM000664.2:g.178573905A>T	GRCh38
NC_000002.11:g.179438632A>T , CM000664.1:g.179438632A>T	GRCh37
NC_000002.10:g.179146878A>T	NCBI36
NG_011618.3:g.261898T>A , LRG_391:g.261898T>A
NG_051363.1:g.56079A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.72227T>A (TTN) MANE Select	NP_001254479.2:p.Leu24076Ter
ENST00000589042.5:c.72227T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu24076Ter
NM_001256850.1:c.67304T>A (TTN)	NP_001243779.1:p.Leu22435Ter
NM_003319.4:c.45032T>A (TTN)	NP_003310.4:p.Leu15011Ter
NM_133378.4:c.64523T>A (TTN)	NP_596869.4:p.Leu21508Ter
NM_133432.3:c.45407T>A (TTN)	NP_597676.3:p.Leu15136Ter
NM_133437.4:c.45608T>A (TTN)	NP_597681.4:p.Leu15203Ter
NR_038271.1:n.596+2456A>T (TTN-AS1)
NR_038272.1:n.2044-8667A>T (TTN-AS1)
ENST00000342175.10:c.45608T>A (TTN)	ENSP00000340554.6:p.Leu15203Ter
ENST00000342175.11:c.45608T>A (TTN)	ENSP00000340554.6:p.Leu15203Ter
ENST00000342992.10:c.64523T>A (TTN)	ENSP00000343764.6:p.Leu21508Ter
ENST00000342992.11:c.64523T>A (TTN)	ENSP00000343764.6:p.Leu21508Ter
ENST00000359218.10:c.45407T>A (TTN)	ENSP00000352154.5:p.Leu15136Ter
ENST00000359218.9:c.45407T>A (TTN)	ENSP00000352154.5:p.Leu15136Ter
ENST00000460472.6:c.45032T>A (TTN)	ENSP00000434586.1:p.Leu15011Ter
ENST00000591111.5:c.67304T>A (TTN)	ENSP00000465570.1:p.Leu22435Ter
ENST00000615779.4:c.67304T>A (TTN)	ENSP00000483597.1:p.Leu22435Ter
XM_011511729.1:c.71324T>A (TTN)	XP_011510031.1:p.Leu23775Ter
XM_011511730.1:c.45218T>A (TTN)	XP_011510032.1:p.Leu15073Ter
XM_011511731.1:c.45077T>A (TTN)	XP_011510033.1:p.Leu15026Ter
XM_017004819.1:c.71120T>A (TTN)	XP_016860308.1:p.Leu23707Ter
XM_017004820.1:c.66518T>A (TTN)	XP_016860309.1:p.Leu22173Ter
XM_017004821.1:c.66515T>A (TTN)	XP_016860310.1:p.Leu22172Ter
XM_017004822.1:c.63557T>A (TTN)	XP_016860311.1:p.Leu21186Ter
XM_017004823.1:c.45173T>A (TTN)	XP_016860312.1:p.Leu15058Ter
XM_024453094.1:c.66668T>A (TTN)	XP_024308862.1:p.Leu22223Ter
XM_024453095.1:c.66665T>A (TTN)	XP_024308863.1:p.Leu22222Ter
XM_024453096.1:c.66098T>A (TTN)	XP_024308864.1:p.Leu22033Ter
XM_024453097.1:c.63440T>A (TTN)	XP_024308865.1:p.Leu21147Ter
XM_024453098.1:c.63359T>A (TTN)	XP_024308866.1:p.Leu21120Ter
XM_024453099.1:c.45122T>A (TTN)	XP_024308867.1:p.Leu15041Ter
XM_024453100.1:c.34976T>A (TTN)	XP_024308868.1:p.Leu11659Ter