Canonical Allele Identifier: CA363680406

Gene: SYNGAP1

Linked Data

• dbSNP Id: rs1175416158
• gnomAD v3: 6-33432685-C-G
• gnomAD v4: 6-33432685-C-G
• MyVariant Identifiers: chr6:g.33400462C>G (hg19) ; chr6:g.33432685C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432685C>G , CM000668.2:g.33432685C>G	GRCh38
NC_000006.11:g.33400462C>G , CM000668.1:g.33400462C>G	GRCh37
NC_000006.10:g.33508440C>G	NCBI36
NG_016137.1:g.17616C>G
NG_016137.2:g.17616C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.130C>G	ENSP00000507403.1:p.Gln44Glu
ENST00000418600.7:c.388C>G	ENSP00000403636.3:p.Gln130Glu
ENST00000449372.7:c.388C>G	ENSP00000416519.4:p.Gln130Glu
ENST00000629380.3:c.388C>G	ENSP00000486463.1:p.Gln130Glu
ENST00000638142.2:c.388C>G	ENSP00000490803.1:p.Gln130Glu
ENST00000644458.1:c.388C>G	ENSP00000495541.1:p.Gln130Glu
ENST00000645250.1:c.211C>G	ENSP00000494861.1:p.Gln71Glu
ENST00000646630.1:c.388C>G MANE Select	ENSP00000496007.1:p.Gln130Glu
ENST00000293748.9:c.343C>G	ENSP00000293748.6:p.Gln115Glu
ENST00000418600.6:c.388C>G	ENSP00000403636.3:p.Gln130Glu
ENST00000428982.4:c.211C>G	ENSP00000412475.2:p.Gln71Glu
ENST00000449372.6:c.388C>G	ENSP00000416519.3:p.Gln130Glu
ENST00000479510.2:n.583C>G
ENST00000628646.2:c.388C>G	ENSP00000486431.1:p.Gln130Glu
ENST00000629380.2:c.388C>G	ENSP00000486463.1:p.Gln130Glu
NM_006772.2:c.388C>G	NP_006763.2:p.Gln130Glu
NM_001130066.1:c.388C>G	NP_001123538.1:p.Gln130Glu
NM_001130066.2:c.388C>G	NP_001123538.1:p.Gln130Glu
NM_006772.3:c.388C>G MANE Select	NP_006763.2:p.Gln130Glu