Canonical Allele Identifier: CA2573052681

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 1323672
• ClinVar RCV Id: RCV001785046
• dbSNP Id: rs2151188326

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443090dup , CM000668.2:g.33443090dup	GRCh38
NC_000006.11:g.33410867dup , CM000668.1:g.33410867dup	GRCh37
NC_000006.10:g.33518845dup	NCBI36
NG_016137.1:g.28021dup
NG_016137.2:g.28021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2280dup (SYNGAP1)	ENSP00000507403.1:p.Gln761ThrfsTer3
ENST00000418600.7:c.2538dup (SYNGAP1)	ENSP00000403636.3:p.Gln847ThrfsTer3
ENST00000449372.7:c.2496dup (SYNGAP1)	ENSP00000416519.4:p.Gln833ThrfsTer3
ENST00000629380.3:c.2538dup (SYNGAP1)	ENSP00000486463.1:p.Gln847ThrfsTer3
ENST00000644458.1:c.2538dup (SYNGAP1)	ENSP00000495541.1:p.Gln847ThrfsTer3
ENST00000645250.1:c.2361dup (SYNGAP1)	ENSP00000494861.1:p.Gln788ThrfsTer3
ENST00000646630.1:c.2538dup (SYNGAP1) MANE Select	ENSP00000496007.1:p.Gln847ThrfsTer3
ENST00000293748.9:c.2493dup (SYNGAP1)	ENSP00000293748.6:p.Gln832ThrfsTer3
ENST00000418600.6:c.2538dup (SYNGAP1)	ENSP00000403636.3:p.Gln847ThrfsTer3
ENST00000428982.4:c.2361dup (SYNGAP1)	ENSP00000412475.2:p.Gln788ThrfsTer3
ENST00000449372.6:c.2496dup (SYNGAP1)	ENSP00000416519.3:p.Gln833ThrfsTer3
ENST00000628646.2:c.2538dup (SYNGAP1)	ENSP00000486431.1:p.Gln847ThrfsTer3
ENST00000629380.2:c.2538dup (SYNGAP1)	ENSP00000486463.1:p.Gln847ThrfsTer3
NM_006772.2:c.2538dup (SYNGAP1)	NP_006763.2:p.Gln847ThrfsTer3
NM_001130066.1:c.2496dup (SYNGAP1)	NP_001123538.1:p.Gln833ThrfsTer3
NM_001130066.2:c.2496dup (SYNGAP1)	NP_001123538.1:p.Gln833ThrfsTer3
NM_006772.3:c.2538dup (SYNGAP1) MANE Select	NP_006763.2:p.Gln847ThrfsTer3
NR_174954.1:n.329+3516dup (SYNGAP1-AS1)