Canonical Allele Identifier: CA349479963

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178591004-C-T
• MyVariant Identifiers: chr2:g.179455731C>T (hg19) ; chr2:g.178591004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591004C>T , CM000664.2:g.178591004C>T	GRCh38
NC_000002.11:g.179455731C>T , CM000664.1:g.179455731C>T	GRCh37
NC_000002.10:g.179163977C>T	NCBI36
NG_011618.3:g.244799G>A , LRG_391:g.244799G>A
NG_051363.1:g.73178C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53017G>A (TTN)	ENSP00000343764.6:p.Glu17673Lys
ENST00000342175.11:c.34102G>A (TTN)	ENSP00000340554.6:p.Glu11368Lys
ENST00000359218.10:c.33901G>A (TTN)	ENSP00000352154.5:p.Glu11301Lys
ENST00000342175.10:c.34102G>A (TTN)	ENSP00000340554.6:p.Glu11368Lys
ENST00000342992.10:c.53017G>A (TTN)	ENSP00000343764.6:p.Glu17673Lys
ENST00000359218.9:c.33901G>A (TTN)	ENSP00000352154.5:p.Glu11301Lys
ENST00000460472.6:c.33526G>A (TTN)	ENSP00000434586.1:p.Glu11176Lys
ENST00000589042.5:c.60721G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu20241Lys
ENST00000591111.5:c.55798G>A (TTN)	ENSP00000465570.1:p.Glu18600Lys
ENST00000615779.4:c.55798G>A (TTN)	ENSP00000483597.1:p.Glu18600Lys
NM_001256850.1:c.55798G>A (TTN)	NP_001243779.1:p.Glu18600Lys
NM_001267550.2:c.60721G>A (TTN) MANE Select	NP_001254479.2:p.Glu20241Lys
NM_003319.4:c.33526G>A (TTN)	NP_003310.4:p.Glu11176Lys
NM_133378.4:c.53017G>A (TTN)	NP_596869.4:p.Glu17673Lys
NM_133432.3:c.33901G>A (TTN)	NP_597676.3:p.Glu11301Lys
NM_133437.4:c.34102G>A (TTN)	NP_597681.4:p.Glu11368Lys
NR_038271.1:n.597-6592C>T (TTN-AS1)
NR_038272.1:n.3189-135C>T (TTN-AS1)
XM_011511729.1:c.59818G>A (TTN)	XP_011510031.1:p.Glu19940Lys
XM_011511730.1:c.33712G>A (TTN)	XP_011510032.1:p.Glu11238Lys
XM_011511731.1:c.33571G>A (TTN)	XP_011510033.1:p.Glu11191Lys
XM_017004819.1:c.59614G>A (TTN)	XP_016860308.1:p.Glu19872Lys
XM_017004820.1:c.55012G>A (TTN)	XP_016860309.1:p.Glu18338Lys
XM_017004821.1:c.55009G>A (TTN)	XP_016860310.1:p.Glu18337Lys
XM_017004822.1:c.52051G>A (TTN)	XP_016860311.1:p.Glu17351Lys
XM_017004823.1:c.33667G>A (TTN)	XP_016860312.1:p.Glu11223Lys
XM_024453094.1:c.55162G>A (TTN)	XP_024308862.1:p.Glu18388Lys
XM_024453095.1:c.55159G>A (TTN)	XP_024308863.1:p.Glu18387Lys
XM_024453096.1:c.54592G>A (TTN)	XP_024308864.1:p.Glu18198Lys
XM_024453097.1:c.51934G>A (TTN)	XP_024308865.1:p.Glu17312Lys
XM_024453098.1:c.51853G>A (TTN)	XP_024308866.1:p.Glu17285Lys
XM_024453099.1:c.33616G>A (TTN)	XP_024308867.1:p.Glu11206Lys
XM_024453100.1:c.23470G>A (TTN)	XP_024308868.1:p.Glu7824Lys