Canonical Allele Identifier: CA566430724

Gene: SYNGAP1

Linked Data

• ClinVar Variation Id: 1274179
• ClinVar RCV Id: RCV001685167
• dbSNP Id: rs1561781788
• gnomAD v2: 6-33400435-C-A
• gnomAD v3: 6-33432658-C-A
• gnomAD v4: 6-33432658-C-A
• MyVariant Identifiers: chr6:g.33400435C>A (hg19) ; chr6:g.33432658C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432658C>A , CM000668.2:g.33432658C>A	GRCh38
NC_000006.11:g.33400435C>A , CM000668.1:g.33400435C>A	GRCh37
NC_000006.10:g.33508413C>A	NCBI36
NG_016137.1:g.17589C>A
NG_016137.2:g.17589C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.130-27C>A	ENSP00000507403.1:n.130-27C>A
ENST00000418600.7:c.388-27C>A	ENSP00000403636.3:n.388-27C>A
ENST00000449372.7:c.388-27C>A	ENSP00000416519.4:n.388-27C>A
ENST00000629380.3:c.388-27C>A	ENSP00000486463.1:n.388-27C>A
ENST00000638142.2:c.388-27C>A	ENSP00000490803.1:n.388-27C>A
ENST00000644458.1:c.388-27C>A	ENSP00000495541.1:n.388-27C>A
ENST00000645250.1:c.211-27C>A	ENSP00000494861.1:n.211-27C>A
ENST00000646630.1:c.388-27C>A MANE Select	ENSP00000496007.1:n.388-27C>A
ENST00000293748.9:c.343-27C>A	ENSP00000293748.6:n.343-27C>A
ENST00000418600.6:c.388-27C>A	ENSP00000403636.3:n.388-27C>A
ENST00000428982.4:c.211-27C>A	ENSP00000412475.2:n.211-27C>A
ENST00000449372.6:c.388-27C>A	ENSP00000416519.3:n.388-27C>A
ENST00000479510.2:n.583-27C>A
ENST00000628646.2:c.388-27C>A	ENSP00000486431.1:n.388-27C>A
ENST00000629380.2:c.388-27C>A	ENSP00000486463.1:n.388-27C>A
NM_006772.2:c.388-27C>A	NP_006763.2:n.388-27C>A
NM_001130066.1:c.388-27C>A	NP_001123538.1:n.388-27C>A
NM_001130066.2:c.388-27C>A	NP_001123538.1:n.388-27C>A
NM_006772.3:c.388-27C>A MANE Select	NP_006763.2:n.388-27C>A