Canonical Allele Identifier: CA1139659352

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 934236
• ClinVar RCV Id: RCV001202586
• dbSNP Id: rs1761207751

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446579dup , CM000668.2:g.33446579dup	GRCh38
NC_000006.11:g.33414356dup , CM000668.1:g.33414356dup	GRCh37
NC_000006.10:g.33522334dup	NCBI36
NG_016137.1:g.31510dup
NG_016137.2:g.31510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3329dup (SYNGAP1)	ENSP00000507403.1:p.Glu1111GlyfsTer24
ENST00000418600.7:c.3587dup (SYNGAP1)	ENSP00000403636.3:p.Glu1197GlyfsTer24
ENST00000449372.7:c.3541-2dup (SYNGAP1)	ENSP00000416519.4:n.3541-2dup
ENST00000629380.3:c.3587dup (SYNGAP1)	ENSP00000486463.1:p.Glu1197GlyfsTer24
ENST00000644458.1:c.3587dup (SYNGAP1)	ENSP00000495541.1:p.Glu1197GlyfsTer24
ENST00000645250.1:c.3410dup (SYNGAP1)	ENSP00000494861.1:p.Glu1138GlyfsTer24
ENST00000646630.1:c.3587dup (SYNGAP1) MANE Select	ENSP00000496007.1:p.Glu1197GlyfsTer24
ENST00000293748.9:c.3542dup (SYNGAP1)	ENSP00000293748.6:p.Glu1182GlyfsTer24
ENST00000418600.6:c.3587dup (SYNGAP1)	ENSP00000403636.3:p.Glu1197GlyfsTer24
ENST00000428982.4:c.3410dup (SYNGAP1)	ENSP00000412475.2:p.Glu1138GlyfsTer24
ENST00000449372.6:c.3541-2dup (SYNGAP1)	ENSP00000416519.3:n.3541-2dup
ENST00000628646.2:c.3587dup (SYNGAP1)	ENSP00000486431.1:p.Glu1197GlyfsTer24
ENST00000629380.2:c.3587dup (SYNGAP1)	ENSP00000486463.1:p.Glu1197GlyfsTer24
NM_006772.2:c.3587dup (SYNGAP1)	NP_006763.2:p.Glu1197GlyfsTer24
NM_001130066.1:c.3541-2dup (SYNGAP1)	NP_001123538.1:n.3541-2dup
NM_001130066.2:c.3541-2dup (SYNGAP1)	NP_001123538.1:n.3541-2dup
NM_006772.3:c.3587dup (SYNGAP1) MANE Select	NP_006763.2:p.Glu1197GlyfsTer24
NR_174954.1:n.329+28dup (SYNGAP1-AS1)