Canonical Allele Identifier: CA349446056

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408026T>A (hg19) ; chr2:g.178543299T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543299T>A , CM000664.2:g.178543299T>A	GRCh38
NC_000002.11:g.179408026T>A , CM000664.1:g.179408026T>A	GRCh37
NC_000002.10:g.179116272T>A	NCBI36
NG_011618.3:g.292504A>T , LRG_391:g.292504A>T
NG_051363.1:g.25473T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88970A>T (TTN)	ENSP00000343764.6:p.Lys29657Ile
ENST00000342175.11:c.70055A>T (TTN)	ENSP00000340554.6:p.Lys23352Ile
ENST00000359218.10:c.69854A>T (TTN)	ENSP00000352154.5:p.Lys23285Ile
ENST00000342175.10:c.70055A>T (TTN)	ENSP00000340554.6:p.Lys23352Ile
ENST00000342992.10:c.88970A>T (TTN)	ENSP00000343764.6:p.Lys29657Ile
ENST00000359218.9:c.69854A>T (TTN)	ENSP00000352154.5:p.Lys23285Ile
ENST00000460472.6:c.69479A>T (TTN)	ENSP00000434586.1:p.Lys23160Ile
ENST00000589042.5:c.96674A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys32225Ile
ENST00000591111.5:c.91751A>T (TTN)	ENSP00000465570.1:p.Lys30584Ile
ENST00000615779.4:c.91751A>T (TTN)	ENSP00000483597.1:p.Lys30584Ile
NM_001256850.1:c.91751A>T (TTN)	NP_001243779.1:p.Lys30584Ile
NM_001267550.2:c.96674A>T (TTN) MANE Select	NP_001254479.2:p.Lys32225Ile
NM_003319.4:c.69479A>T (TTN)	NP_003310.4:p.Lys23160Ile
NM_133378.4:c.88970A>T (TTN)	NP_596869.4:p.Lys29657Ile
NM_133432.3:c.69854A>T (TTN)	NP_597676.3:p.Lys23285Ile
NM_133437.4:c.70055A>T (TTN)	NP_597681.4:p.Lys23352Ile
NR_038271.1:n.446+19663T>A (TTN-AS1)
NR_038272.1:n.2043+938T>A (TTN-AS1)
XM_011511729.1:c.95771A>T (TTN)	XP_011510031.1:p.Lys31924Ile
XM_011511730.1:c.69665A>T (TTN)	XP_011510032.1:p.Lys23222Ile
XM_011511731.1:c.69524A>T (TTN)	XP_011510033.1:p.Lys23175Ile
XM_017004819.1:c.95567A>T (TTN)	XP_016860308.1:p.Lys31856Ile
XM_017004820.1:c.90965A>T (TTN)	XP_016860309.1:p.Lys30322Ile
XM_017004821.1:c.90962A>T (TTN)	XP_016860310.1:p.Lys30321Ile
XM_017004822.1:c.88004A>T (TTN)	XP_016860311.1:p.Lys29335Ile
XM_017004823.1:c.69620A>T (TTN)	XP_016860312.1:p.Lys23207Ile
XM_024453094.1:c.91115A>T (TTN)	XP_024308862.1:p.Lys30372Ile
XM_024453095.1:c.91112A>T (TTN)	XP_024308863.1:p.Lys30371Ile
XM_024453096.1:c.90545A>T (TTN)	XP_024308864.1:p.Lys30182Ile
XM_024453097.1:c.87887A>T (TTN)	XP_024308865.1:p.Lys29296Ile
XM_024453098.1:c.87806A>T (TTN)	XP_024308866.1:p.Lys29269Ile
XM_024453099.1:c.69569A>T (TTN)	XP_024308867.1:p.Lys23190Ile
XM_024453100.1:c.59423A>T (TTN)	XP_024308868.1:p.Lys19808Ile