Canonical Allele Identifier: CA1620013759

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33441331C= , CM000668.2:g.33441331C=	GRCh38
NC_000006.11:g.33409108C= , CM000668.1:g.33409108C=	GRCh37
NC_000006.10:g.33517086C=	NCBI36
NG_016137.1:g.26262C=
NG_016137.2:g.26262C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.1814C= (SYNGAP1)	ENSP00000507403.1:p.Thr605=
ENST00000418600.7:c.2072C= (SYNGAP1)	ENSP00000403636.3:p.Thr691=
ENST00000449372.7:c.2072C= (SYNGAP1)	ENSP00000416519.4:p.Thr691=
ENST00000629380.3:c.2072C= (SYNGAP1)	ENSP00000486463.1:p.Thr691=
ENST00000636193.1:n.24C= (SYNGAP1)
ENST00000636640.1:n.3C= (SYNGAP1)
ENST00000638142.2:c.*469C= (SYNGAP1)	ENSP00000490803.1:n.*469C=
ENST00000644458.1:c.2072C= (SYNGAP1)	ENSP00000495541.1:p.Thr691=
ENST00000645250.1:c.1895C= (SYNGAP1)	ENSP00000494861.1:p.Thr632=
ENST00000646630.1:c.2072C= (SYNGAP1) MANE Select	ENSP00000496007.1:p.Thr691=
ENST00000293748.9:c.2027C= (SYNGAP1)	ENSP00000293748.6:p.Thr676=
ENST00000418600.6:c.2072C= (SYNGAP1)	ENSP00000403636.3:p.Thr691=
ENST00000428982.4:c.1895C= (SYNGAP1)	ENSP00000412475.2:p.Thr632=
ENST00000449372.6:c.2072C= (SYNGAP1)	ENSP00000416519.3:p.Thr691=
ENST00000628646.2:c.2072C= (SYNGAP1)	ENSP00000486431.1:p.Thr691=
ENST00000629380.2:c.2072C= (SYNGAP1)	ENSP00000486463.1:p.Thr691=
NM_006772.2:c.2072C= (SYNGAP1)	NP_006763.2:p.Thr691=
NM_001130066.1:c.2072C= (SYNGAP1)	NP_001123538.1:p.Thr691=
NM_001130066.2:c.2072C= (SYNGAP1)	NP_001123538.1:p.Thr691=
NM_006772.3:c.2072C= (SYNGAP1) MANE Select	NP_006763.2:p.Thr691=
NR_174954.1:n.330-3850G= (SYNGAP1-AS1)