Canonical Allele Identifier: CA430097218

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178597927A>T , CM000664.2:g.178597927A>T	GRCh38
NC_000002.11:g.179462654A>T , CM000664.1:g.179462654A>T	GRCh37
NC_000002.10:g.179170899A>T	NCBI36
NG_011618.3:g.237876T>A , LRG_391:g.237876T>A
NG_051363.1:g.80101A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.57243T>A (TTN) MANE Select	NP_001254479.2:p.Ile19081=
ENST00000589042.5:c.57243T>A (TTN) MANE Select	ENSP00000467141.1:p.Ile19081=
NM_001256850.1:c.52320T>A (TTN)	NP_001243779.1:p.Ile17440=
NM_003319.4:c.30048T>A (TTN)	NP_003310.4:p.Ile10016=
NM_133378.4:c.49539T>A (TTN)	NP_596869.4:p.Ile16513=
NM_133432.3:c.30423T>A (TTN)	NP_597676.3:p.Ile10141=
NM_133437.4:c.30624T>A (TTN)	NP_597681.4:p.Ile10208=
NR_038271.1:n.682+246A>T (TTN-AS1)
NR_038272.1:n.3450+246A>T (TTN-AS1)
ENST00000342175.10:c.30624T>A (TTN)	ENSP00000340554.6:p.Ile10208=
ENST00000342175.11:c.30624T>A (TTN)	ENSP00000340554.6:p.Ile10208=
ENST00000342992.10:c.49539T>A (TTN)	ENSP00000343764.6:p.Ile16513=
ENST00000342992.11:c.49539T>A (TTN)	ENSP00000343764.6:p.Ile16513=
ENST00000359218.10:c.30423T>A (TTN)	ENSP00000352154.5:p.Ile10141=
ENST00000359218.9:c.30423T>A (TTN)	ENSP00000352154.5:p.Ile10141=
ENST00000460472.6:c.30048T>A (TTN)	ENSP00000434586.1:p.Ile10016=
ENST00000591111.5:c.52320T>A (TTN)	ENSP00000465570.1:p.Ile17440=
ENST00000615779.4:c.52320T>A (TTN)	ENSP00000483597.1:p.Ile17440=
XM_011511729.1:c.56340T>A (TTN)	XP_011510031.1:p.Ile18780=
XM_011511730.1:c.30234T>A (TTN)	XP_011510032.1:p.Ile10078=
XM_011511731.1:c.30093T>A (TTN)	XP_011510033.1:p.Ile10031=
XM_017004819.1:c.56136T>A (TTN)	XP_016860308.1:p.Ile18712=
XM_017004820.1:c.51534T>A (TTN)	XP_016860309.1:p.Ile17178=
XM_017004821.1:c.51531T>A (TTN)	XP_016860310.1:p.Ile17177=
XM_017004822.1:c.48573T>A (TTN)	XP_016860311.1:p.Ile16191=
XM_017004823.1:c.30189T>A (TTN)	XP_016860312.1:p.Ile10063=
XM_024453094.1:c.51684T>A (TTN)	XP_024308862.1:p.Ile17228=
XM_024453095.1:c.51681T>A (TTN)	XP_024308863.1:p.Ile17227=
XM_024453096.1:c.51114T>A (TTN)	XP_024308864.1:p.Ile17038=
XM_024453097.1:c.48456T>A (TTN)	XP_024308865.1:p.Ile16152=
XM_024453098.1:c.48375T>A (TTN)	XP_024308866.1:p.Ile16125=
XM_024453099.1:c.30138T>A (TTN)	XP_024308867.1:p.Ile10046=
XM_024453100.1:c.19992T>A (TTN)	XP_024308868.1:p.Ile6664=