Canonical Allele Identifier: CA363685192

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 2732842
• ClinVar RCV Id: RCV003508790
• MyVariant Identifiers: chr6:g.33405611A>G (hg19) ; chr6:g.33437834A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33437834A>G , CM000668.2:g.33437834A>G	GRCh38
NC_000006.11:g.33405611A>G , CM000668.1:g.33405611A>G	GRCh37
NC_000006.10:g.33513589A>G	NCBI36
NG_016137.1:g.22765A>G
NG_016137.2:g.22765A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.671A>G (SYNGAP1)	ENSP00000507403.1:p.Glu224Gly
ENST00000418600.7:c.929A>G (SYNGAP1)	ENSP00000403636.3:p.Glu310Gly
ENST00000449372.7:c.929A>G (SYNGAP1)	ENSP00000416519.4:p.Glu310Gly
ENST00000629380.3:c.929A>G (SYNGAP1)	ENSP00000486463.1:p.Glu310Gly
ENST00000638142.2:c.929A>G (SYNGAP1)	ENSP00000490803.1:p.Glu310Gly
ENST00000644458.1:c.929A>G (SYNGAP1)	ENSP00000495541.1:p.Glu310Gly
ENST00000645250.1:c.752A>G (SYNGAP1)	ENSP00000494861.1:p.Glu251Gly
ENST00000646630.1:c.929A>G (SYNGAP1) MANE Select	ENSP00000496007.1:p.Glu310Gly
ENST00000293748.9:c.884A>G (SYNGAP1)	ENSP00000293748.6:p.Glu295Gly
ENST00000418600.6:c.929A>G (SYNGAP1)	ENSP00000403636.3:p.Glu310Gly
ENST00000428982.4:c.752A>G (SYNGAP1)	ENSP00000412475.2:p.Glu251Gly
ENST00000449372.6:c.929A>G (SYNGAP1)	ENSP00000416519.3:p.Glu310Gly
ENST00000479510.2:n.1124A>G (SYNGAP1)
ENST00000628646.2:c.929A>G (SYNGAP1)	ENSP00000486431.1:p.Glu310Gly
ENST00000629380.2:c.929A>G (SYNGAP1)	ENSP00000486463.1:p.Glu310Gly
NM_006772.2:c.929A>G (SYNGAP1)	NP_006763.2:p.Glu310Gly
NM_001130066.1:c.929A>G (SYNGAP1)	NP_001123538.1:p.Glu310Gly
NM_001130066.2:c.929A>G (SYNGAP1)	NP_001123538.1:p.Glu310Gly
NM_006772.3:c.929A>G (SYNGAP1) MANE Select	NP_006763.2:p.Glu310Gly
NR_174954.1:n.330-353T>C (SYNGAP1-AS1)