Canonical Allele Identifier: CA1620013508

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33440769C= , CM000668.2:g.33440769C=	GRCh38
NC_000006.11:g.33408546C= , CM000668.1:g.33408546C=	GRCh37
NC_000006.10:g.33516524C=	NCBI36
NG_016137.1:g.25700C=
NG_016137.2:g.25700C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006772.3:c.1717C= (SYNGAP1) MANE Select	NP_006763.2:p.Arg573=
ENST00000646630.1:c.1717C= (SYNGAP1) MANE Select	ENSP00000496007.1:p.Arg573=
NM_001130066.1:c.1717C= (SYNGAP1)	NP_001123538.1:p.Arg573=
NM_001130066.2:c.1717C= (SYNGAP1)	NP_001123538.1:p.Arg573=
NM_006772.2:c.1717C= (SYNGAP1)	NP_006763.2:p.Arg573=
NR_174954.1:n.330-3288G= (SYNGAP1-AS1)
ENST00000293748.9:c.1672C= (SYNGAP1)	ENSP00000293748.6:p.Arg558=
ENST00000418600.6:c.1717C= (SYNGAP1)	ENSP00000403636.3:p.Arg573=
ENST00000418600.7:c.1717C= (SYNGAP1)	ENSP00000403636.3:p.Arg573=
ENST00000428982.4:c.1540C= (SYNGAP1)	ENSP00000412475.2:p.Arg514=
ENST00000449372.6:c.1717C= (SYNGAP1)	ENSP00000416519.3:p.Arg573=
ENST00000449372.7:c.1717C= (SYNGAP1)	ENSP00000416519.4:p.Arg573=
ENST00000628646.2:c.1717C= (SYNGAP1)	ENSP00000486431.1:p.Arg573=
ENST00000629380.2:c.1717C= (SYNGAP1)	ENSP00000486463.1:p.Arg573=
ENST00000629380.3:c.1717C= (SYNGAP1)	ENSP00000486463.1:p.Arg573=
ENST00000638142.2:c.*114C= (SYNGAP1)	ENSP00000490803.1:n.*114C=
ENST00000644458.1:c.1717C= (SYNGAP1)	ENSP00000495541.1:p.Arg573=
ENST00000645250.1:c.1540C= (SYNGAP1)	ENSP00000494861.1:p.Arg514=
ENST00000682587.1:c.1459C= (SYNGAP1)	ENSP00000507403.1:p.Arg487=