Canonical Allele Identifier: CA3758583

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 1940706
• ClinVar RCV Id: RCV002658547
• dbSNP Id: rs753551370
• ExAC: 6:33405644 G / A
• gnomAD v2: 6-33405644-G-A
• gnomAD v4: 6-33437867-G-A
• COSMIC: COSM4731586 ; COSM4731587
• MyVariant Identifiers: chr6:g.33405644G>A (hg19) ; chr6:g.33437867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33437867G>A , CM000668.2:g.33437867G>A	GRCh38
NC_000006.11:g.33405644G>A , CM000668.1:g.33405644G>A	GRCh37
NC_000006.10:g.33513622G>A	NCBI36
NG_016137.1:g.22798G>A
NG_016137.2:g.22798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.704G>A (SYNGAP1)	ENSP00000507403.1:p.Arg235His
ENST00000418600.7:c.962G>A (SYNGAP1)	ENSP00000403636.3:p.Arg321His
ENST00000449372.7:c.962G>A (SYNGAP1)	ENSP00000416519.4:p.Arg321His
ENST00000629380.3:c.962G>A (SYNGAP1)	ENSP00000486463.1:p.Arg321His
ENST00000638142.2:c.962G>A (SYNGAP1)	ENSP00000490803.1:p.Arg321His
ENST00000644458.1:c.962G>A (SYNGAP1)	ENSP00000495541.1:p.Arg321His
ENST00000645250.1:c.785G>A (SYNGAP1)	ENSP00000494861.1:p.Arg262His
ENST00000646630.1:c.962G>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Arg321His
ENST00000293748.9:c.917G>A (SYNGAP1)	ENSP00000293748.6:p.Arg306His
ENST00000418600.6:c.962G>A (SYNGAP1)	ENSP00000403636.3:p.Arg321His
ENST00000428982.4:c.785G>A (SYNGAP1)	ENSP00000412475.2:p.Arg262His
ENST00000449372.6:c.962G>A (SYNGAP1)	ENSP00000416519.3:p.Arg321His
ENST00000479510.2:n.1157G>A (SYNGAP1)
ENST00000628646.2:c.962G>A (SYNGAP1)	ENSP00000486431.1:p.Arg321His
ENST00000629380.2:c.962G>A (SYNGAP1)	ENSP00000486463.1:p.Arg321His
NM_006772.2:c.962G>A (SYNGAP1)	NP_006763.2:p.Arg321His
NM_001130066.1:c.962G>A (SYNGAP1)	NP_001123538.1:p.Arg321His
NM_001130066.2:c.962G>A (SYNGAP1)	NP_001123538.1:p.Arg321His
NM_006772.3:c.962G>A (SYNGAP1) MANE Select	NP_006763.2:p.Arg321His
NR_174954.1:n.330-386C>T (SYNGAP1-AS1)