Canonical Allele Identifier: CA349434783

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179404684T>A (hg19) ; chr2:g.178539957T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539957T>A , CM000664.2:g.178539957T>A	GRCh38
NC_000002.11:g.179404684T>A , CM000664.1:g.179404684T>A	GRCh37
NC_000002.10:g.179112930T>A	NCBI36
NG_011618.3:g.295846A>T , LRG_391:g.295846A>T
NG_051363.1:g.22131T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90404A>T (TTN)	ENSP00000343764.6:p.Asp30135Val
ENST00000342175.11:c.71489A>T (TTN)	ENSP00000340554.6:p.Asp23830Val
ENST00000359218.10:c.71288A>T (TTN)	ENSP00000352154.5:p.Asp23763Val
ENST00000342175.10:c.71489A>T (TTN)	ENSP00000340554.6:p.Asp23830Val
ENST00000342992.10:c.90404A>T (TTN)	ENSP00000343764.6:p.Asp30135Val
ENST00000359218.9:c.71288A>T (TTN)	ENSP00000352154.5:p.Asp23763Val
ENST00000460472.6:c.70913A>T (TTN)	ENSP00000434586.1:p.Asp23638Val
ENST00000589042.5:c.98108A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp32703Val
ENST00000591111.5:c.93185A>T (TTN)	ENSP00000465570.1:p.Asp31062Val
ENST00000615779.4:c.93185A>T (TTN)	ENSP00000483597.1:p.Asp31062Val
NM_001256850.1:c.93185A>T (TTN)	NP_001243779.1:p.Asp31062Val
NM_001267550.2:c.98108A>T (TTN) MANE Select	NP_001254479.2:p.Asp32703Val
NM_003319.4:c.70913A>T (TTN)	NP_003310.4:p.Asp23638Val
NM_133378.4:c.90404A>T (TTN)	NP_596869.4:p.Asp30135Val
NM_133432.3:c.71288A>T (TTN)	NP_597676.3:p.Asp23763Val
NM_133437.4:c.71489A>T (TTN)	NP_597681.4:p.Asp23830Val
NR_038271.1:n.446+16321T>A (TTN-AS1)
NR_038272.1:n.1840+67T>A (TTN-AS1)
XM_011511729.1:c.97205A>T (TTN)	XP_011510031.1:p.Asp32402Val
XM_011511730.1:c.71099A>T (TTN)	XP_011510032.1:p.Asp23700Val
XM_011511731.1:c.70958A>T (TTN)	XP_011510033.1:p.Asp23653Val
XM_017004819.1:c.97001A>T (TTN)	XP_016860308.1:p.Asp32334Val
XM_017004820.1:c.92399A>T (TTN)	XP_016860309.1:p.Asp30800Val
XM_017004821.1:c.92396A>T (TTN)	XP_016860310.1:p.Asp30799Val
XM_017004822.1:c.89438A>T (TTN)	XP_016860311.1:p.Asp29813Val
XM_017004823.1:c.71054A>T (TTN)	XP_016860312.1:p.Asp23685Val
XM_024453094.1:c.92549A>T (TTN)	XP_024308862.1:p.Asp30850Val
XM_024453095.1:c.92546A>T (TTN)	XP_024308863.1:p.Asp30849Val
XM_024453096.1:c.91979A>T (TTN)	XP_024308864.1:p.Asp30660Val
XM_024453097.1:c.89321A>T (TTN)	XP_024308865.1:p.Asp29774Val
XM_024453098.1:c.89240A>T (TTN)	XP_024308866.1:p.Asp29747Val
XM_024453099.1:c.71003A>T (TTN)	XP_024308867.1:p.Asp23668Val
XM_024453100.1:c.60857A>T (TTN)	XP_024308868.1:p.Asp20286Val