Canonical Allele Identifier: CA349411708

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 515133
• ClinVar RCV Id: RCV000607468 ; RCV003767703
• dbSNP Id: rs1553488312
• gnomAD v4: 2-178532166-C-T
• COSMIC: COSM5922222 ; COSM5922223 ; COSM5922224 ; COSM5922225
• MyVariant Identifiers: chr2:g.179396893C>T (hg19) ; chr2:g.178532166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532166C>T , CM000664.2:g.178532166C>T	GRCh38
NC_000002.11:g.179396893C>T , CM000664.1:g.179396893C>T	GRCh37
NC_000002.10:g.179105139C>T	NCBI36
NG_011618.3:g.303637G>A , LRG_391:g.303637G>A
NG_051363.1:g.14340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96745G>A (TTN)	ENSP00000343764.6:p.Glu32249Lys
ENST00000342175.11:c.77830G>A (TTN)	ENSP00000340554.6:p.Glu25944Lys
ENST00000359218.10:c.77629G>A (TTN)	ENSP00000352154.5:p.Glu25877Lys
ENST00000342175.10:c.77830G>A (TTN)	ENSP00000340554.6:p.Glu25944Lys
ENST00000342992.10:c.96745G>A (TTN)	ENSP00000343764.6:p.Glu32249Lys
ENST00000359218.9:c.77629G>A (TTN)	ENSP00000352154.5:p.Glu25877Lys
ENST00000460472.6:c.77254G>A (TTN)	ENSP00000434586.1:p.Glu25752Lys
ENST00000589042.5:c.104449G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu34817Lys
ENST00000591111.5:c.99526G>A (TTN)	ENSP00000465570.1:p.Glu33176Lys
ENST00000615779.4:c.99526G>A (TTN)	ENSP00000483597.1:p.Glu33176Lys
NM_001256850.1:c.99526G>A (TTN)	NP_001243779.1:p.Glu33176Lys
NM_001267550.2:c.104449G>A (TTN) MANE Select	NP_001254479.2:p.Glu34817Lys
NM_003319.4:c.77254G>A (TTN)	NP_003310.4:p.Glu25752Lys
NM_133378.4:c.96745G>A (TTN)	NP_596869.4:p.Glu32249Lys
NM_133432.3:c.77629G>A (TTN)	NP_597676.3:p.Glu25877Lys
NM_133437.4:c.77830G>A (TTN)	NP_597681.4:p.Glu25944Lys
NR_038271.1:n.446+8530C>T (TTN-AS1)
NR_038272.1:n.220-3566C>T (TTN-AS1)
XM_011511729.1:c.103546G>A (TTN)	XP_011510031.1:p.Glu34516Lys
XM_011511730.1:c.77440G>A (TTN)	XP_011510032.1:p.Glu25814Lys
XM_011511731.1:c.77299G>A (TTN)	XP_011510033.1:p.Glu25767Lys
XM_017004819.1:c.103342G>A (TTN)	XP_016860308.1:p.Glu34448Lys
XM_017004820.1:c.98740G>A (TTN)	XP_016860309.1:p.Glu32914Lys
XM_017004821.1:c.98737G>A (TTN)	XP_016860310.1:p.Glu32913Lys
XM_017004822.1:c.95779G>A (TTN)	XP_016860311.1:p.Glu31927Lys
XM_017004823.1:c.77395G>A (TTN)	XP_016860312.1:p.Glu25799Lys
XM_024453094.1:c.98890G>A (TTN)	XP_024308862.1:p.Glu32964Lys
XM_024453095.1:c.98887G>A (TTN)	XP_024308863.1:p.Glu32963Lys
XM_024453096.1:c.98320G>A (TTN)	XP_024308864.1:p.Glu32774Lys
XM_024453097.1:c.95662G>A (TTN)	XP_024308865.1:p.Glu31888Lys
XM_024453098.1:c.95581G>A (TTN)	XP_024308866.1:p.Glu31861Lys
XM_024453099.1:c.77344G>A (TTN)	XP_024308867.1:p.Glu25782Lys
XM_024453100.1:c.67198G>A (TTN)	XP_024308868.1:p.Glu22400Lys