Canonical Allele Identifier: CA1620010170

Gene: SYNGAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432685C= , CM000668.2:g.33432685C=	GRCh38
NC_000006.11:g.33400462C= , CM000668.1:g.33400462C=	GRCh37
NC_000006.10:g.33508440C=	NCBI36
NG_016137.1:g.17616C=
NG_016137.2:g.17616C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.130C=	ENSP00000507403.1:p.Gln44=
ENST00000418600.7:c.388C=	ENSP00000403636.3:p.Gln130=
ENST00000449372.7:c.388C=	ENSP00000416519.4:p.Gln130=
ENST00000629380.3:c.388C=	ENSP00000486463.1:p.Gln130=
ENST00000638142.2:c.388C=	ENSP00000490803.1:p.Gln130=
ENST00000644458.1:c.388C=	ENSP00000495541.1:p.Gln130=
ENST00000645250.1:c.211C=	ENSP00000494861.1:p.Gln71=
ENST00000646630.1:c.388C= MANE Select	ENSP00000496007.1:p.Gln130=
ENST00000293748.9:c.343C=	ENSP00000293748.6:p.Gln115=
ENST00000418600.6:c.388C=	ENSP00000403636.3:p.Gln130=
ENST00000428982.4:c.211C=	ENSP00000412475.2:p.Gln71=
ENST00000449372.6:c.388C=	ENSP00000416519.3:p.Gln130=
ENST00000479510.2:n.583C=
ENST00000628646.2:c.388C=	ENSP00000486431.1:p.Gln130=
ENST00000629380.2:c.388C=	ENSP00000486463.1:p.Gln130=
NM_006772.2:c.388C=	NP_006763.2:p.Gln130=
NM_001130066.1:c.388C=	NP_001123538.1:p.Gln130=
NM_001130066.2:c.388C=	NP_001123538.1:p.Gln130=
NM_006772.3:c.388C= MANE Select	NP_006763.2:p.Gln130=