Canonical Allele Identifier: CA349611381

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433562T>A (hg19) ; chr2:g.178568835T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568835T>A , CM000664.2:g.178568835T>A	GRCh38
NC_000002.11:g.179433562T>A , CM000664.1:g.179433562T>A	GRCh37
NC_000002.10:g.179141808T>A	NCBI36
NG_011618.3:g.266968A>T , LRG_391:g.266968A>T
NG_051363.1:g.51009T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69593A>T (TTN)	ENSP00000343764.6:p.Glu23198Val
ENST00000342175.11:c.50678A>T (TTN)	ENSP00000340554.6:p.Glu16893Val
ENST00000359218.10:c.50477A>T (TTN)	ENSP00000352154.5:p.Glu16826Val
ENST00000342175.10:c.50678A>T (TTN)	ENSP00000340554.6:p.Glu16893Val
ENST00000342992.10:c.69593A>T (TTN)	ENSP00000343764.6:p.Glu23198Val
ENST00000359218.9:c.50477A>T (TTN)	ENSP00000352154.5:p.Glu16826Val
ENST00000460472.6:c.50102A>T (TTN)	ENSP00000434586.1:p.Glu16701Val
ENST00000589042.5:c.77297A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu25766Val
ENST00000591111.5:c.72374A>T (TTN)	ENSP00000465570.1:p.Glu24125Val
ENST00000615779.4:c.72374A>T (TTN)	ENSP00000483597.1:p.Glu24125Val
NM_001256850.1:c.72374A>T (TTN)	NP_001243779.1:p.Glu24125Val
NM_001267550.2:c.77297A>T (TTN) MANE Select	NP_001254479.2:p.Glu25766Val
NM_003319.4:c.50102A>T (TTN)	NP_003310.4:p.Glu16701Val
NM_133378.4:c.69593A>T (TTN)	NP_596869.4:p.Glu23198Val
NM_133432.3:c.50477A>T (TTN)	NP_597676.3:p.Glu16826Val
NM_133437.4:c.50678A>T (TTN)	NP_597681.4:p.Glu16893Val
NR_038271.1:n.447-2465T>A (TTN-AS1)
NR_038272.1:n.2044-13737T>A (TTN-AS1)
XM_011511729.1:c.76394A>T (TTN)	XP_011510031.1:p.Glu25465Val
XM_011511730.1:c.50288A>T (TTN)	XP_011510032.1:p.Glu16763Val
XM_011511731.1:c.50147A>T (TTN)	XP_011510033.1:p.Glu16716Val
XM_017004819.1:c.76190A>T (TTN)	XP_016860308.1:p.Glu25397Val
XM_017004820.1:c.71588A>T (TTN)	XP_016860309.1:p.Glu23863Val
XM_017004821.1:c.71585A>T (TTN)	XP_016860310.1:p.Glu23862Val
XM_017004822.1:c.68627A>T (TTN)	XP_016860311.1:p.Glu22876Val
XM_017004823.1:c.50243A>T (TTN)	XP_016860312.1:p.Glu16748Val
XM_024453094.1:c.71738A>T (TTN)	XP_024308862.1:p.Glu23913Val
XM_024453095.1:c.71735A>T (TTN)	XP_024308863.1:p.Glu23912Val
XM_024453096.1:c.71168A>T (TTN)	XP_024308864.1:p.Glu23723Val
XM_024453097.1:c.68510A>T (TTN)	XP_024308865.1:p.Glu22837Val
XM_024453098.1:c.68429A>T (TTN)	XP_024308866.1:p.Glu22810Val
XM_024453099.1:c.50192A>T (TTN)	XP_024308867.1:p.Glu16731Val
XM_024453100.1:c.40046A>T (TTN)	XP_024308868.1:p.Glu13349Val