Canonical Allele Identifier: CA349523843

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179463276T>A (hg19) ; chr2:g.178598549T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598549T>A , CM000664.2:g.178598549T>A	GRCh38
NC_000002.11:g.179463276T>A , CM000664.1:g.179463276T>A	GRCh37
NC_000002.10:g.179171521T>A	NCBI36
NG_011618.3:g.237254A>T , LRG_391:g.237254A>T
NG_051363.1:g.80723T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.49364A>T (TTN)	ENSP00000343764.6:p.Tyr16455Phe
ENST00000342175.11:c.30449A>T (TTN)	ENSP00000340554.6:p.Tyr10150Phe
ENST00000359218.10:c.30248A>T (TTN)	ENSP00000352154.5:p.Tyr10083Phe
ENST00000342175.10:c.30449A>T (TTN)	ENSP00000340554.6:p.Tyr10150Phe
ENST00000342992.10:c.49364A>T (TTN)	ENSP00000343764.6:p.Tyr16455Phe
ENST00000359218.9:c.30248A>T (TTN)	ENSP00000352154.5:p.Tyr10083Phe
ENST00000460472.6:c.29873A>T (TTN)	ENSP00000434586.1:p.Tyr9958Phe
ENST00000589042.5:c.57068A>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr19023Phe
ENST00000591111.5:c.52145A>T (TTN)	ENSP00000465570.1:p.Tyr17382Phe
ENST00000615779.4:c.52145A>T (TTN)	ENSP00000483597.1:p.Tyr17382Phe
NM_001256850.1:c.52145A>T (TTN)	NP_001243779.1:p.Tyr17382Phe
NM_001267550.2:c.57068A>T (TTN) MANE Select	NP_001254479.2:p.Tyr19023Phe
NM_003319.4:c.29873A>T (TTN)	NP_003310.4:p.Tyr9958Phe
NM_133378.4:c.49364A>T (TTN)	NP_596869.4:p.Tyr16455Phe
NM_133432.3:c.30248A>T (TTN)	NP_597676.3:p.Tyr10083Phe
NM_133437.4:c.30449A>T (TTN)	NP_597681.4:p.Tyr10150Phe
NR_038271.1:n.682+868T>A (TTN-AS1)
NR_038272.1:n.3451-7T>A (TTN-AS1)
XM_011511729.1:c.56165A>T (TTN)	XP_011510031.1:p.Tyr18722Phe
XM_011511730.1:c.30059A>T (TTN)	XP_011510032.1:p.Tyr10020Phe
XM_011511731.1:c.29918A>T (TTN)	XP_011510033.1:p.Tyr9973Phe
XM_017004819.1:c.55961A>T (TTN)	XP_016860308.1:p.Tyr18654Phe
XM_017004820.1:c.51359A>T (TTN)	XP_016860309.1:p.Tyr17120Phe
XM_017004821.1:c.51356A>T (TTN)	XP_016860310.1:p.Tyr17119Phe
XM_017004822.1:c.48398A>T (TTN)	XP_016860311.1:p.Tyr16133Phe
XM_017004823.1:c.30014A>T (TTN)	XP_016860312.1:p.Tyr10005Phe
XM_024453094.1:c.51509A>T (TTN)	XP_024308862.1:p.Tyr17170Phe
XM_024453095.1:c.51506A>T (TTN)	XP_024308863.1:p.Tyr17169Phe
XM_024453096.1:c.50939A>T (TTN)	XP_024308864.1:p.Tyr16980Phe
XM_024453097.1:c.48281A>T (TTN)	XP_024308865.1:p.Tyr16094Phe
XM_024453098.1:c.48200A>T (TTN)	XP_024308866.1:p.Tyr16067Phe
XM_024453099.1:c.29963A>T (TTN)	XP_024308867.1:p.Tyr9988Phe
XM_024453100.1:c.19817A>T (TTN)	XP_024308868.1:p.Tyr6606Phe