Canonical Allele Identifier: CA1620013552

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33440864G= , CM000668.2:g.33440864G=	GRCh38
NC_000006.11:g.33408641G= , CM000668.1:g.33408641G=	GRCh37
NC_000006.10:g.33516619G=	NCBI36
NG_016137.1:g.25795G=
NG_016137.2:g.25795G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.1554G= (SYNGAP1)	ENSP00000507403.1:p.Ser518=
ENST00000418600.7:c.1812G= (SYNGAP1)	ENSP00000403636.3:p.Ser604=
ENST00000449372.7:c.1812G= (SYNGAP1)	ENSP00000416519.4:p.Ser604=
ENST00000629380.3:c.1812G= (SYNGAP1)	ENSP00000486463.1:p.Ser604=
ENST00000638142.2:c.*209G= (SYNGAP1)	ENSP00000490803.1:n.*209G=
ENST00000644458.1:c.1812G= (SYNGAP1)	ENSP00000495541.1:p.Ser604=
ENST00000645250.1:c.1635G= (SYNGAP1)	ENSP00000494861.1:p.Ser545=
ENST00000646630.1:c.1812G= (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ser604=
ENST00000293748.9:c.1767G= (SYNGAP1)	ENSP00000293748.6:p.Ser589=
ENST00000418600.6:c.1812G= (SYNGAP1)	ENSP00000403636.3:p.Ser604=
ENST00000428982.4:c.1635G= (SYNGAP1)	ENSP00000412475.2:p.Ser545=
ENST00000449372.6:c.1812G= (SYNGAP1)	ENSP00000416519.3:p.Ser604=
ENST00000628646.2:c.1812G= (SYNGAP1)	ENSP00000486431.1:p.Ser604=
ENST00000629380.2:c.1812G= (SYNGAP1)	ENSP00000486463.1:p.Ser604=
NM_006772.2:c.1812G= (SYNGAP1)	NP_006763.2:p.Ser604=
NM_001130066.1:c.1812G= (SYNGAP1)	NP_001123538.1:p.Ser604=
NM_001130066.2:c.1812G= (SYNGAP1)	NP_001123538.1:p.Ser604=
NM_006772.3:c.1812G= (SYNGAP1) MANE Select	NP_006763.2:p.Ser604=
NR_174954.1:n.330-3383C= (SYNGAP1-AS1)