Canonical Allele Identifier: CA349551932

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179425246T>G (hg19) ; chr2:g.178560519T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560519T>G , CM000664.2:g.178560519T>G	GRCh38
NC_000002.11:g.179425246T>G , CM000664.1:g.179425246T>G	GRCh37
NC_000002.10:g.179133492T>G	NCBI36
NG_011618.3:g.275284A>C , LRG_391:g.275284A>C
NG_051363.1:g.42693T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.77909A>C (TTN)	ENSP00000343764.6:p.Glu25970Ala
ENST00000342175.11:c.58994A>C (TTN)	ENSP00000340554.6:p.Glu19665Ala
ENST00000359218.10:c.58793A>C (TTN)	ENSP00000352154.5:p.Glu19598Ala
ENST00000342175.10:c.58994A>C (TTN)	ENSP00000340554.6:p.Glu19665Ala
ENST00000342992.10:c.77909A>C (TTN)	ENSP00000343764.6:p.Glu25970Ala
ENST00000359218.9:c.58793A>C (TTN)	ENSP00000352154.5:p.Glu19598Ala
ENST00000460472.6:c.58418A>C (TTN)	ENSP00000434586.1:p.Glu19473Ala
ENST00000589042.5:c.85613A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu28538Ala
ENST00000591111.5:c.80690A>C (TTN)	ENSP00000465570.1:p.Glu26897Ala
ENST00000615779.4:c.80690A>C (TTN)	ENSP00000483597.1:p.Glu26897Ala
NM_001256850.1:c.80690A>C (TTN)	NP_001243779.1:p.Glu26897Ala
NM_001267550.2:c.85613A>C (TTN) MANE Select	NP_001254479.2:p.Glu28538Ala
NM_003319.4:c.58418A>C (TTN)	NP_003310.4:p.Glu19473Ala
NM_133378.4:c.77909A>C (TTN)	NP_596869.4:p.Glu25970Ala
NM_133432.3:c.58793A>C (TTN)	NP_597676.3:p.Glu19598Ala
NM_133437.4:c.58994A>C (TTN)	NP_597681.4:p.Glu19665Ala
NR_038271.1:n.447-10781T>G (TTN-AS1)
NR_038272.1:n.2043+18158T>G (TTN-AS1)
XM_011511729.1:c.84710A>C (TTN)	XP_011510031.1:p.Glu28237Ala
XM_011511730.1:c.58604A>C (TTN)	XP_011510032.1:p.Glu19535Ala
XM_011511731.1:c.58463A>C (TTN)	XP_011510033.1:p.Glu19488Ala
XM_017004819.1:c.84506A>C (TTN)	XP_016860308.1:p.Glu28169Ala
XM_017004820.1:c.79904A>C (TTN)	XP_016860309.1:p.Glu26635Ala
XM_017004821.1:c.79901A>C (TTN)	XP_016860310.1:p.Glu26634Ala
XM_017004822.1:c.76943A>C (TTN)	XP_016860311.1:p.Glu25648Ala
XM_017004823.1:c.58559A>C (TTN)	XP_016860312.1:p.Glu19520Ala
XM_024453094.1:c.80054A>C (TTN)	XP_024308862.1:p.Glu26685Ala
XM_024453095.1:c.80051A>C (TTN)	XP_024308863.1:p.Glu26684Ala
XM_024453096.1:c.79484A>C (TTN)	XP_024308864.1:p.Glu26495Ala
XM_024453097.1:c.76826A>C (TTN)	XP_024308865.1:p.Glu25609Ala
XM_024453098.1:c.76745A>C (TTN)	XP_024308866.1:p.Glu25582Ala
XM_024453099.1:c.58508A>C (TTN)	XP_024308867.1:p.Glu19503Ala
XM_024453100.1:c.48362A>C (TTN)	XP_024308868.1:p.Glu16121Ala