Canonical Allele Identifier: CA349496360

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414584T>A (hg19) ; chr2:g.178549857T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549857T>A , CM000664.2:g.178549857T>A	GRCh38
NC_000002.11:g.179414584T>A , CM000664.1:g.179414584T>A	GRCh37
NC_000002.10:g.179122830T>A	NCBI36
NG_011618.3:g.285946A>T , LRG_391:g.285946A>T
NG_051363.1:g.32031T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84161A>T (TTN)	ENSP00000343764.6:p.Lys28054Ile
ENST00000342175.11:c.65246A>T (TTN)	ENSP00000340554.6:p.Lys21749Ile
ENST00000359218.10:c.65045A>T (TTN)	ENSP00000352154.5:p.Lys21682Ile
ENST00000342175.10:c.65246A>T (TTN)	ENSP00000340554.6:p.Lys21749Ile
ENST00000342992.10:c.84161A>T (TTN)	ENSP00000343764.6:p.Lys28054Ile
ENST00000359218.9:c.65045A>T (TTN)	ENSP00000352154.5:p.Lys21682Ile
ENST00000460472.6:c.64670A>T (TTN)	ENSP00000434586.1:p.Lys21557Ile
ENST00000589042.5:c.91865A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys30622Ile
ENST00000591111.5:c.86942A>T (TTN)	ENSP00000465570.1:p.Lys28981Ile
ENST00000615779.4:c.86942A>T (TTN)	ENSP00000483597.1:p.Lys28981Ile
NM_001256850.1:c.86942A>T (TTN)	NP_001243779.1:p.Lys28981Ile
NM_001267550.2:c.91865A>T (TTN) MANE Select	NP_001254479.2:p.Lys30622Ile
NM_003319.4:c.64670A>T (TTN)	NP_003310.4:p.Lys21557Ile
NM_133378.4:c.84161A>T (TTN)	NP_596869.4:p.Lys28054Ile
NM_133432.3:c.65045A>T (TTN)	NP_597676.3:p.Lys21682Ile
NM_133437.4:c.65246A>T (TTN)	NP_597681.4:p.Lys21749Ile
NR_038271.1:n.447-21443T>A (TTN-AS1)
NR_038272.1:n.2043+7496T>A (TTN-AS1)
XM_011511729.1:c.90962A>T (TTN)	XP_011510031.1:p.Lys30321Ile
XM_011511730.1:c.64856A>T (TTN)	XP_011510032.1:p.Lys21619Ile
XM_011511731.1:c.64715A>T (TTN)	XP_011510033.1:p.Lys21572Ile
XM_017004819.1:c.90758A>T (TTN)	XP_016860308.1:p.Lys30253Ile
XM_017004820.1:c.86156A>T (TTN)	XP_016860309.1:p.Lys28719Ile
XM_017004821.1:c.86153A>T (TTN)	XP_016860310.1:p.Lys28718Ile
XM_017004822.1:c.83195A>T (TTN)	XP_016860311.1:p.Lys27732Ile
XM_017004823.1:c.64811A>T (TTN)	XP_016860312.1:p.Lys21604Ile
XM_024453094.1:c.86306A>T (TTN)	XP_024308862.1:p.Lys28769Ile
XM_024453095.1:c.86303A>T (TTN)	XP_024308863.1:p.Lys28768Ile
XM_024453096.1:c.85736A>T (TTN)	XP_024308864.1:p.Lys28579Ile
XM_024453097.1:c.83078A>T (TTN)	XP_024308865.1:p.Lys27693Ile
XM_024453098.1:c.82997A>T (TTN)	XP_024308866.1:p.Lys27666Ile
XM_024453099.1:c.64760A>T (TTN)	XP_024308867.1:p.Lys21587Ile
XM_024453100.1:c.54614A>T (TTN)	XP_024308868.1:p.Lys18205Ile