Canonical Allele Identifier: CA349551997

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179425255T>A (hg19) ; chr2:g.178560528T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560528T>A , CM000664.2:g.178560528T>A	GRCh38
NC_000002.11:g.179425255T>A , CM000664.1:g.179425255T>A	GRCh37
NC_000002.10:g.179133501T>A	NCBI36
NG_011618.3:g.275275A>T , LRG_391:g.275275A>T
NG_051363.1:g.42702T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.77900A>T (TTN)	ENSP00000343764.6:p.Glu25967Val
ENST00000342175.11:c.58985A>T (TTN)	ENSP00000340554.6:p.Glu19662Val
ENST00000359218.10:c.58784A>T (TTN)	ENSP00000352154.5:p.Glu19595Val
ENST00000342175.10:c.58985A>T (TTN)	ENSP00000340554.6:p.Glu19662Val
ENST00000342992.10:c.77900A>T (TTN)	ENSP00000343764.6:p.Glu25967Val
ENST00000359218.9:c.58784A>T (TTN)	ENSP00000352154.5:p.Glu19595Val
ENST00000460472.6:c.58409A>T (TTN)	ENSP00000434586.1:p.Glu19470Val
ENST00000589042.5:c.85604A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu28535Val
ENST00000591111.5:c.80681A>T (TTN)	ENSP00000465570.1:p.Glu26894Val
ENST00000615779.4:c.80681A>T (TTN)	ENSP00000483597.1:p.Glu26894Val
NM_001256850.1:c.80681A>T (TTN)	NP_001243779.1:p.Glu26894Val
NM_001267550.2:c.85604A>T (TTN) MANE Select	NP_001254479.2:p.Glu28535Val
NM_003319.4:c.58409A>T (TTN)	NP_003310.4:p.Glu19470Val
NM_133378.4:c.77900A>T (TTN)	NP_596869.4:p.Glu25967Val
NM_133432.3:c.58784A>T (TTN)	NP_597676.3:p.Glu19595Val
NM_133437.4:c.58985A>T (TTN)	NP_597681.4:p.Glu19662Val
NR_038271.1:n.447-10772T>A (TTN-AS1)
NR_038272.1:n.2043+18167T>A (TTN-AS1)
XM_011511729.1:c.84701A>T (TTN)	XP_011510031.1:p.Glu28234Val
XM_011511730.1:c.58595A>T (TTN)	XP_011510032.1:p.Glu19532Val
XM_011511731.1:c.58454A>T (TTN)	XP_011510033.1:p.Glu19485Val
XM_017004819.1:c.84497A>T (TTN)	XP_016860308.1:p.Glu28166Val
XM_017004820.1:c.79895A>T (TTN)	XP_016860309.1:p.Glu26632Val
XM_017004821.1:c.79892A>T (TTN)	XP_016860310.1:p.Glu26631Val
XM_017004822.1:c.76934A>T (TTN)	XP_016860311.1:p.Glu25645Val
XM_017004823.1:c.58550A>T (TTN)	XP_016860312.1:p.Glu19517Val
XM_024453094.1:c.80045A>T (TTN)	XP_024308862.1:p.Glu26682Val
XM_024453095.1:c.80042A>T (TTN)	XP_024308863.1:p.Glu26681Val
XM_024453096.1:c.79475A>T (TTN)	XP_024308864.1:p.Glu26492Val
XM_024453097.1:c.76817A>T (TTN)	XP_024308865.1:p.Glu25606Val
XM_024453098.1:c.76736A>T (TTN)	XP_024308866.1:p.Glu25579Val
XM_024453099.1:c.58499A>T (TTN)	XP_024308867.1:p.Glu19500Val
XM_024453100.1:c.48353A>T (TTN)	XP_024308868.1:p.Glu16118Val