Canonical Allele Identifier: CA1620014517

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443148G= , CM000668.2:g.33443148G=	GRCh38
NC_000006.11:g.33410925G= , CM000668.1:g.33410925G=	GRCh37
NC_000006.10:g.33518903G=	NCBI36
NG_016137.1:g.28079G=
NG_016137.2:g.28079G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2338G= (SYNGAP1)	ENSP00000507403.1:p.Val780=
ENST00000418600.7:c.2596G= (SYNGAP1)	ENSP00000403636.3:p.Val866=
ENST00000449372.7:c.2554G= (SYNGAP1)	ENSP00000416519.4:p.Val852=
ENST00000629380.3:c.2596G= (SYNGAP1)	ENSP00000486463.1:p.Val866=
ENST00000644458.1:c.2596G= (SYNGAP1)	ENSP00000495541.1:p.Val866=
ENST00000645250.1:c.2419G= (SYNGAP1)	ENSP00000494861.1:p.Val807=
ENST00000646630.1:c.2596G= (SYNGAP1) MANE Select	ENSP00000496007.1:p.Val866=
ENST00000293748.9:c.2551G= (SYNGAP1)	ENSP00000293748.6:p.Val851=
ENST00000418600.6:c.2596G= (SYNGAP1)	ENSP00000403636.3:p.Val866=
ENST00000428982.4:c.2419G= (SYNGAP1)	ENSP00000412475.2:p.Val807=
ENST00000449372.6:c.2554G= (SYNGAP1)	ENSP00000416519.3:p.Val852=
ENST00000628646.2:c.2596G= (SYNGAP1)	ENSP00000486431.1:p.Val866=
ENST00000629380.2:c.2596G= (SYNGAP1)	ENSP00000486463.1:p.Val866=
NM_006772.2:c.2596G= (SYNGAP1)	NP_006763.2:p.Val866=
NM_001130066.1:c.2554G= (SYNGAP1)	NP_001123538.1:p.Val852=
NM_001130066.2:c.2554G= (SYNGAP1)	NP_001123538.1:p.Val852=
NM_006772.3:c.2596G= (SYNGAP1) MANE Select	NP_006763.2:p.Val866=
NR_174954.1:n.329+3458C= (SYNGAP1-AS1)