Canonical Allele Identifier: CA349564245

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179427037T>G (hg19) ; chr2:g.178562310T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562310T>G , CM000664.2:g.178562310T>G	GRCh38
NC_000002.11:g.179427037T>G , CM000664.1:g.179427037T>G	GRCh37
NC_000002.10:g.179135283T>G	NCBI36
NG_011618.3:g.273493A>C , LRG_391:g.273493A>C
NG_051363.1:g.44484T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76118A>C (TTN)	ENSP00000343764.6:p.Glu25373Ala
ENST00000342175.11:c.57203A>C (TTN)	ENSP00000340554.6:p.Glu19068Ala
ENST00000359218.10:c.57002A>C (TTN)	ENSP00000352154.5:p.Glu19001Ala
ENST00000342175.10:c.57203A>C (TTN)	ENSP00000340554.6:p.Glu19068Ala
ENST00000342992.10:c.76118A>C (TTN)	ENSP00000343764.6:p.Glu25373Ala
ENST00000359218.9:c.57002A>C (TTN)	ENSP00000352154.5:p.Glu19001Ala
ENST00000460472.6:c.56627A>C (TTN)	ENSP00000434586.1:p.Glu18876Ala
ENST00000589042.5:c.83822A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu27941Ala
ENST00000591111.5:c.78899A>C (TTN)	ENSP00000465570.1:p.Glu26300Ala
ENST00000615779.4:c.78899A>C (TTN)	ENSP00000483597.1:p.Glu26300Ala
NM_001256850.1:c.78899A>C (TTN)	NP_001243779.1:p.Glu26300Ala
NM_001267550.2:c.83822A>C (TTN) MANE Select	NP_001254479.2:p.Glu27941Ala
NM_003319.4:c.56627A>C (TTN)	NP_003310.4:p.Glu18876Ala
NM_133378.4:c.76118A>C (TTN)	NP_596869.4:p.Glu25373Ala
NM_133432.3:c.57002A>C (TTN)	NP_597676.3:p.Glu19001Ala
NM_133437.4:c.57203A>C (TTN)	NP_597681.4:p.Glu19068Ala
NR_038271.1:n.447-8990T>G (TTN-AS1)
NR_038272.1:n.2043+19949T>G (TTN-AS1)
XM_011511729.1:c.82919A>C (TTN)	XP_011510031.1:p.Glu27640Ala
XM_011511730.1:c.56813A>C (TTN)	XP_011510032.1:p.Glu18938Ala
XM_011511731.1:c.56672A>C (TTN)	XP_011510033.1:p.Glu18891Ala
XM_017004819.1:c.82715A>C (TTN)	XP_016860308.1:p.Glu27572Ala
XM_017004820.1:c.78113A>C (TTN)	XP_016860309.1:p.Glu26038Ala
XM_017004821.1:c.78110A>C (TTN)	XP_016860310.1:p.Glu26037Ala
XM_017004822.1:c.75152A>C (TTN)	XP_016860311.1:p.Glu25051Ala
XM_017004823.1:c.56768A>C (TTN)	XP_016860312.1:p.Glu18923Ala
XM_024453094.1:c.78263A>C (TTN)	XP_024308862.1:p.Glu26088Ala
XM_024453095.1:c.78260A>C (TTN)	XP_024308863.1:p.Glu26087Ala
XM_024453096.1:c.77693A>C (TTN)	XP_024308864.1:p.Glu25898Ala
XM_024453097.1:c.75035A>C (TTN)	XP_024308865.1:p.Glu25012Ala
XM_024453098.1:c.74954A>C (TTN)	XP_024308866.1:p.Glu24985Ala
XM_024453099.1:c.56717A>C (TTN)	XP_024308867.1:p.Glu18906Ala
XM_024453100.1:c.46571A>C (TTN)	XP_024308868.1:p.Glu15524Ala