Canonical Allele Identifier: CA915944227

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 802205
• ClinVar RCV Id: RCV000987683
• dbSNP Id: rs1582001015

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446591dup , CM000668.2:g.33446591dup	GRCh38
NC_000006.11:g.33414368dup , CM000668.1:g.33414368dup	GRCh37
NC_000006.10:g.33522346dup	NCBI36
NG_016137.1:g.31522dup
NG_016137.2:g.31522dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3341dup (SYNGAP1)	ENSP00000507403.1:p.Glu1115GlyfsTer20
ENST00000418600.7:c.3599dup (SYNGAP1)	ENSP00000403636.3:p.Glu1201GlyfsTer20
ENST00000449372.7:c.3551dup (SYNGAP1)	ENSP00000416519.4:p.Glu1185GlyfsTer20
ENST00000629380.3:c.3599dup (SYNGAP1)	ENSP00000486463.1:p.Glu1201GlyfsTer20
ENST00000644458.1:c.3599dup (SYNGAP1)	ENSP00000495541.1:p.Glu1201GlyfsTer20
ENST00000645250.1:c.3422dup (SYNGAP1)	ENSP00000494861.1:p.Glu1142GlyfsTer20
ENST00000646630.1:c.3599dup (SYNGAP1) MANE Select	ENSP00000496007.1:p.Glu1201GlyfsTer20
ENST00000293748.9:c.3554dup (SYNGAP1)	ENSP00000293748.6:p.Glu1186GlyfsTer20
ENST00000418600.6:c.3599dup (SYNGAP1)	ENSP00000403636.3:p.Glu1201GlyfsTer20
ENST00000428982.4:c.3422dup (SYNGAP1)	ENSP00000412475.2:p.Glu1142GlyfsTer20
ENST00000449372.6:c.3551dup (SYNGAP1)	ENSP00000416519.3:p.Glu1185GlyfsTer20
ENST00000628646.2:c.3599dup (SYNGAP1)	ENSP00000486431.1:p.Glu1201GlyfsTer20
ENST00000629380.2:c.3599dup (SYNGAP1)	ENSP00000486463.1:p.Glu1201GlyfsTer20
NM_006772.2:c.3599dup (SYNGAP1)	NP_006763.2:p.Glu1201GlyfsTer20
NM_001130066.1:c.3551dup (SYNGAP1)	NP_001123538.1:p.Glu1185GlyfsTer20
NM_001130066.2:c.3551dup (SYNGAP1)	NP_001123538.1:p.Glu1185GlyfsTer20
NM_006772.3:c.3599dup (SYNGAP1) MANE Select	NP_006763.2:p.Glu1201GlyfsTer20
NR_174954.1:n.329+15dup (SYNGAP1-AS1)