Canonical Allele Identifier: CA449860283

Gene: SYNGAP1

Linked Data

• dbSNP Id: rs1212409209
• gnomAD v2: 6-33400503-A-G
• gnomAD v4: 6-33432726-A-G
• MyVariant Identifiers: chr6:g.33400503A>G (hg19) ; chr6:g.33432726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432726A>G , CM000668.2:g.33432726A>G	GRCh38
NC_000006.11:g.33400503A>G , CM000668.1:g.33400503A>G	GRCh37
NC_000006.10:g.33508481A>G	NCBI36
NG_016137.1:g.17657A>G
NG_016137.2:g.17657A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.171A>G	ENSP00000507403.1:p.Arg57=
ENST00000418600.7:c.429A>G	ENSP00000403636.3:p.Arg143=
ENST00000449372.7:c.429A>G	ENSP00000416519.4:p.Arg143=
ENST00000629380.3:c.429A>G	ENSP00000486463.1:p.Arg143=
ENST00000638142.2:c.429A>G	ENSP00000490803.1:p.Arg143=
ENST00000644458.1:c.429A>G	ENSP00000495541.1:p.Arg143=
ENST00000645250.1:c.252A>G	ENSP00000494861.1:p.Arg84=
ENST00000646630.1:c.429A>G MANE Select	ENSP00000496007.1:p.Arg143=
ENST00000293748.9:c.384A>G	ENSP00000293748.6:p.Arg128=
ENST00000418600.6:c.429A>G	ENSP00000403636.3:p.Arg143=
ENST00000428982.4:c.252A>G	ENSP00000412475.2:p.Arg84=
ENST00000449372.6:c.429A>G	ENSP00000416519.3:p.Arg143=
ENST00000479510.2:n.624A>G
ENST00000628646.2:c.429A>G	ENSP00000486431.1:p.Arg143=
ENST00000629380.2:c.429A>G	ENSP00000486463.1:p.Arg143=
NM_006772.2:c.429A>G	NP_006763.2:p.Arg143=
NM_001130066.1:c.429A>G	NP_001123538.1:p.Arg143=
NM_001130066.2:c.429A>G	NP_001123538.1:p.Arg143=
NM_006772.3:c.429A>G MANE Select	NP_006763.2:p.Arg143=