Canonical Allele Identifier: CA349495539

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414495T>A (hg19) ; chr2:g.178549768T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549768T>A , CM000664.2:g.178549768T>A	GRCh38
NC_000002.11:g.179414495T>A , CM000664.1:g.179414495T>A	GRCh37
NC_000002.10:g.179122741T>A	NCBI36
NG_011618.3:g.286035A>T , LRG_391:g.286035A>T
NG_051363.1:g.31942T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.84250A>T (TTN)	ENSP00000343764.6:p.Ile28084Leu
ENST00000342175.11:c.65335A>T (TTN)	ENSP00000340554.6:p.Ile21779Leu
ENST00000359218.10:c.65134A>T (TTN)	ENSP00000352154.5:p.Ile21712Leu
ENST00000342175.10:c.65335A>T (TTN)	ENSP00000340554.6:p.Ile21779Leu
ENST00000342992.10:c.84250A>T (TTN)	ENSP00000343764.6:p.Ile28084Leu
ENST00000359218.9:c.65134A>T (TTN)	ENSP00000352154.5:p.Ile21712Leu
ENST00000460472.6:c.64759A>T (TTN)	ENSP00000434586.1:p.Ile21587Leu
ENST00000589042.5:c.91954A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile30652Leu
ENST00000591111.5:c.87031A>T (TTN)	ENSP00000465570.1:p.Ile29011Leu
ENST00000615779.4:c.87031A>T (TTN)	ENSP00000483597.1:p.Ile29011Leu
NM_001256850.1:c.87031A>T (TTN)	NP_001243779.1:p.Ile29011Leu
NM_001267550.2:c.91954A>T (TTN) MANE Select	NP_001254479.2:p.Ile30652Leu
NM_003319.4:c.64759A>T (TTN)	NP_003310.4:p.Ile21587Leu
NM_133378.4:c.84250A>T (TTN)	NP_596869.4:p.Ile28084Leu
NM_133432.3:c.65134A>T (TTN)	NP_597676.3:p.Ile21712Leu
NM_133437.4:c.65335A>T (TTN)	NP_597681.4:p.Ile21779Leu
NR_038271.1:n.447-21532T>A (TTN-AS1)
NR_038272.1:n.2043+7407T>A (TTN-AS1)
XM_011511729.1:c.91051A>T (TTN)	XP_011510031.1:p.Ile30351Leu
XM_011511730.1:c.64945A>T (TTN)	XP_011510032.1:p.Ile21649Leu
XM_011511731.1:c.64804A>T (TTN)	XP_011510033.1:p.Ile21602Leu
XM_017004819.1:c.90847A>T (TTN)	XP_016860308.1:p.Ile30283Leu
XM_017004820.1:c.86245A>T (TTN)	XP_016860309.1:p.Ile28749Leu
XM_017004821.1:c.86242A>T (TTN)	XP_016860310.1:p.Ile28748Leu
XM_017004822.1:c.83284A>T (TTN)	XP_016860311.1:p.Ile27762Leu
XM_017004823.1:c.64900A>T (TTN)	XP_016860312.1:p.Ile21634Leu
XM_024453094.1:c.86395A>T (TTN)	XP_024308862.1:p.Ile28799Leu
XM_024453095.1:c.86392A>T (TTN)	XP_024308863.1:p.Ile28798Leu
XM_024453096.1:c.85825A>T (TTN)	XP_024308864.1:p.Ile28609Leu
XM_024453097.1:c.83167A>T (TTN)	XP_024308865.1:p.Ile27723Leu
XM_024453098.1:c.83086A>T (TTN)	XP_024308866.1:p.Ile27696Leu
XM_024453099.1:c.64849A>T (TTN)	XP_024308867.1:p.Ile21617Leu
XM_024453100.1:c.54703A>T (TTN)	XP_024308868.1:p.Ile18235Leu