Canonical Allele Identifier: CA450103678

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 758527
• ClinVar RCV Id: RCV000936259
• dbSNP Id: rs1313871439
• gnomAD v3: 6-33443039-G-A
• gnomAD v4: 6-33443039-G-A
• MyVariant Identifiers: chr6:g.33410816G>A (hg19) ; chr6:g.33443039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443039G>A , CM000668.2:g.33443039G>A	GRCh38
NC_000006.11:g.33410816G>A , CM000668.1:g.33410816G>A	GRCh37
NC_000006.10:g.33518794G>A	NCBI36
NG_016137.1:g.27970G>A
NG_016137.2:g.27970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2229G>A (SYNGAP1)	ENSP00000507403.1:p.Glu743=
ENST00000418600.7:c.2487G>A (SYNGAP1)	ENSP00000403636.3:p.Glu829=
ENST00000449372.7:c.2445G>A (SYNGAP1)	ENSP00000416519.4:p.Glu815=
ENST00000629380.3:c.2487G>A (SYNGAP1)	ENSP00000486463.1:p.Glu829=
ENST00000644458.1:c.2487G>A (SYNGAP1)	ENSP00000495541.1:p.Glu829=
ENST00000645250.1:c.2310G>A (SYNGAP1)	ENSP00000494861.1:p.Glu770=
ENST00000646630.1:c.2487G>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Glu829=
ENST00000293748.9:c.2442G>A (SYNGAP1)	ENSP00000293748.6:p.Glu814=
ENST00000418600.6:c.2487G>A (SYNGAP1)	ENSP00000403636.3:p.Glu829=
ENST00000428982.4:c.2310G>A (SYNGAP1)	ENSP00000412475.2:p.Glu770=
ENST00000449372.6:c.2445G>A (SYNGAP1)	ENSP00000416519.3:p.Glu815=
ENST00000628646.2:c.2487G>A (SYNGAP1)	ENSP00000486431.1:p.Glu829=
ENST00000629380.2:c.2487G>A (SYNGAP1)	ENSP00000486463.1:p.Glu829=
NM_006772.2:c.2487G>A (SYNGAP1)	NP_006763.2:p.Glu829=
NM_001130066.1:c.2445G>A (SYNGAP1)	NP_001123538.1:p.Glu815=
NM_001130066.2:c.2445G>A (SYNGAP1)	NP_001123538.1:p.Glu815=
NM_006772.3:c.2487G>A (SYNGAP1) MANE Select	NP_006763.2:p.Glu829=
NR_174954.1:n.329+3567C>T (SYNGAP1-AS1)