Canonical Allele Identifier: CA363680891

Gene: SYNGAP1

Linked Data

• ClinVar Variation Id: 653477
• ClinVar RCV Id: RCV000809259
• dbSNP Id: rs1581980479
• MyVariant Identifiers: chr6:g.33400579G>A (hg19) ; chr6:g.33432802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432802G>A , CM000668.2:g.33432802G>A	GRCh38
NC_000006.11:g.33400579G>A , CM000668.1:g.33400579G>A	GRCh37
NC_000006.10:g.33508557G>A	NCBI36
NG_016137.1:g.17733G>A
NG_016137.2:g.17733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.247G>A	ENSP00000507403.1:p.Asp83Asn
ENST00000418600.7:c.505G>A	ENSP00000403636.3:p.Asp169Asn
ENST00000449372.7:c.505G>A	ENSP00000416519.4:p.Asp169Asn
ENST00000629380.3:c.505G>A	ENSP00000486463.1:p.Asp169Asn
ENST00000638142.2:c.505G>A	ENSP00000490803.1:p.Asp169Asn
ENST00000644458.1:c.505G>A	ENSP00000495541.1:p.Asp169Asn
ENST00000645250.1:c.328G>A	ENSP00000494861.1:p.Asp110Asn
ENST00000646630.1:c.505G>A MANE Select	ENSP00000496007.1:p.Asp169Asn
ENST00000293748.9:c.460G>A	ENSP00000293748.6:p.Asp154Asn
ENST00000418600.6:c.505G>A	ENSP00000403636.3:p.Asp169Asn
ENST00000428982.4:c.328G>A	ENSP00000412475.2:p.Asp110Asn
ENST00000449372.6:c.505G>A	ENSP00000416519.3:p.Asp169Asn
ENST00000479510.2:n.700G>A
ENST00000628646.2:c.505G>A	ENSP00000486431.1:p.Asp169Asn
ENST00000629380.2:c.505G>A	ENSP00000486463.1:p.Asp169Asn
NM_006772.2:c.505G>A	NP_006763.2:p.Asp169Asn
NM_001130066.1:c.505G>A	NP_001123538.1:p.Asp169Asn
NM_001130066.2:c.505G>A	NP_001123538.1:p.Asp169Asn
NM_006772.3:c.505G>A MANE Select	NP_006763.2:p.Asp169Asn