Canonical Allele Identifier: CA450106884

Gene: SYNGAP1

Linked Data

• ClinVar Variation Id: 2817719
• ClinVar RCV Id: RCV003616349
• MyVariant Identifiers: chr6:g.33402933C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33435156C>A , CM000668.2:g.33435156C>A	GRCh38
NC_000006.11:g.33402933C>A , CM000668.1:g.33402933C>A	GRCh37
NC_000006.10:g.33510911C>A	NCBI36
NG_016137.1:g.20087C>A
NG_016137.2:g.20087C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.256C>A	ENSP00000507403.1:p.Arg86=
ENST00000418600.7:c.514C>A	ENSP00000403636.3:p.Arg172=
ENST00000449372.7:c.514C>A	ENSP00000416519.4:p.Arg172=
ENST00000629380.3:c.514C>A	ENSP00000486463.1:p.Arg172=
ENST00000638142.2:c.514C>A	ENSP00000490803.1:p.Arg172=
ENST00000644458.1:c.514C>A	ENSP00000495541.1:p.Arg172=
ENST00000645250.1:c.337C>A	ENSP00000494861.1:p.Arg113=
ENST00000646630.1:c.514C>A MANE Select	ENSP00000496007.1:p.Arg172=
ENST00000293748.9:c.469C>A	ENSP00000293748.6:p.Arg157=
ENST00000418600.6:c.514C>A	ENSP00000403636.3:p.Arg172=
ENST00000428982.4:c.337C>A	ENSP00000412475.2:p.Arg113=
ENST00000449372.6:c.514C>A	ENSP00000416519.3:p.Arg172=
ENST00000479510.2:n.709C>A
ENST00000628646.2:c.514C>A	ENSP00000486431.1:p.Arg172=
ENST00000629380.2:c.514C>A	ENSP00000486463.1:p.Arg172=
NM_006772.2:c.514C>A	NP_006763.2:p.Arg172=
NM_001130066.1:c.514C>A	NP_001123538.1:p.Arg172=
NM_001130066.2:c.514C>A	NP_001123538.1:p.Arg172=
NM_006772.3:c.514C>A MANE Select	NP_006763.2:p.Arg172=