Canonical Allele Identifier: CA349522400

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178597920T>A , CM000664.2:g.178597920T>A	GRCh38
NC_000002.11:g.179462647T>A , CM000664.1:g.179462647T>A	GRCh37
NC_000002.10:g.179170892T>A	NCBI36
NG_011618.3:g.237883A>T , LRG_391:g.237883A>T
NG_051363.1:g.80094T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.57250A>T (TTN) MANE Select	NP_001254479.2:p.Lys19084Ter
ENST00000589042.5:c.57250A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys19084Ter
NM_001256850.1:c.52327A>T (TTN)	NP_001243779.1:p.Lys17443Ter
NM_003319.4:c.30055A>T (TTN)	NP_003310.4:p.Lys10019Ter
NM_133378.4:c.49546A>T (TTN)	NP_596869.4:p.Lys16516Ter
NM_133432.3:c.30430A>T (TTN)	NP_597676.3:p.Lys10144Ter
NM_133437.4:c.30631A>T (TTN)	NP_597681.4:p.Lys10211Ter
NR_038271.1:n.682+239T>A (TTN-AS1)
NR_038272.1:n.3450+239T>A (TTN-AS1)
ENST00000342175.10:c.30631A>T (TTN)	ENSP00000340554.6:p.Lys10211Ter
ENST00000342175.11:c.30631A>T (TTN)	ENSP00000340554.6:p.Lys10211Ter
ENST00000342992.10:c.49546A>T (TTN)	ENSP00000343764.6:p.Lys16516Ter
ENST00000342992.11:c.49546A>T (TTN)	ENSP00000343764.6:p.Lys16516Ter
ENST00000359218.10:c.30430A>T (TTN)	ENSP00000352154.5:p.Lys10144Ter
ENST00000359218.9:c.30430A>T (TTN)	ENSP00000352154.5:p.Lys10144Ter
ENST00000460472.6:c.30055A>T (TTN)	ENSP00000434586.1:p.Lys10019Ter
ENST00000591111.5:c.52327A>T (TTN)	ENSP00000465570.1:p.Lys17443Ter
ENST00000615779.4:c.52327A>T (TTN)	ENSP00000483597.1:p.Lys17443Ter
XM_011511729.1:c.56347A>T (TTN)	XP_011510031.1:p.Lys18783Ter
XM_011511730.1:c.30241A>T (TTN)	XP_011510032.1:p.Lys10081Ter
XM_011511731.1:c.30100A>T (TTN)	XP_011510033.1:p.Lys10034Ter
XM_017004819.1:c.56143A>T (TTN)	XP_016860308.1:p.Lys18715Ter
XM_017004820.1:c.51541A>T (TTN)	XP_016860309.1:p.Lys17181Ter
XM_017004821.1:c.51538A>T (TTN)	XP_016860310.1:p.Lys17180Ter
XM_017004822.1:c.48580A>T (TTN)	XP_016860311.1:p.Lys16194Ter
XM_017004823.1:c.30196A>T (TTN)	XP_016860312.1:p.Lys10066Ter
XM_024453094.1:c.51691A>T (TTN)	XP_024308862.1:p.Lys17231Ter
XM_024453095.1:c.51688A>T (TTN)	XP_024308863.1:p.Lys17230Ter
XM_024453096.1:c.51121A>T (TTN)	XP_024308864.1:p.Lys17041Ter
XM_024453097.1:c.48463A>T (TTN)	XP_024308865.1:p.Lys16155Ter
XM_024453098.1:c.48382A>T (TTN)	XP_024308866.1:p.Lys16128Ter
XM_024453099.1:c.30145A>T (TTN)	XP_024308867.1:p.Lys10049Ter
XM_024453100.1:c.19999A>T (TTN)	XP_024308868.1:p.Lys6667Ter