Canonical Allele Identifier: CA450107420

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• dbSNP Id: rs1760889823
• MyVariant Identifiers: chr6:g.33405585C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33437808C>T , CM000668.2:g.33437808C>T	GRCh38
NC_000006.11:g.33405585C>T , CM000668.1:g.33405585C>T	GRCh37
NC_000006.10:g.33513563C>T	NCBI36
NG_016137.1:g.22739C>T
NG_016137.2:g.22739C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.645C>T (SYNGAP1)	ENSP00000507403.1:p.Ala215=
ENST00000418600.7:c.903C>T (SYNGAP1)	ENSP00000403636.3:p.Ala301=
ENST00000449372.7:c.903C>T (SYNGAP1)	ENSP00000416519.4:p.Ala301=
ENST00000629380.3:c.903C>T (SYNGAP1)	ENSP00000486463.1:p.Ala301=
ENST00000638142.2:c.903C>T (SYNGAP1)	ENSP00000490803.1:p.Ala301=
ENST00000644458.1:c.903C>T (SYNGAP1)	ENSP00000495541.1:p.Ala301=
ENST00000645250.1:c.726C>T (SYNGAP1)	ENSP00000494861.1:p.Ala242=
ENST00000646630.1:c.903C>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ala301=
ENST00000293748.9:c.858C>T (SYNGAP1)	ENSP00000293748.6:p.Ala286=
ENST00000418600.6:c.903C>T (SYNGAP1)	ENSP00000403636.3:p.Ala301=
ENST00000428982.4:c.726C>T (SYNGAP1)	ENSP00000412475.2:p.Ala242=
ENST00000449372.6:c.903C>T (SYNGAP1)	ENSP00000416519.3:p.Ala301=
ENST00000479510.2:n.1098C>T (SYNGAP1)
ENST00000628646.2:c.903C>T (SYNGAP1)	ENSP00000486431.1:p.Ala301=
ENST00000629380.2:c.903C>T (SYNGAP1)	ENSP00000486463.1:p.Ala301=
NM_006772.2:c.903C>T (SYNGAP1)	NP_006763.2:p.Ala301=
NM_001130066.1:c.903C>T (SYNGAP1)	NP_001123538.1:p.Ala301=
NM_001130066.2:c.903C>T (SYNGAP1)	NP_001123538.1:p.Ala301=
NM_006772.3:c.903C>T (SYNGAP1) MANE Select	NP_006763.2:p.Ala301=
NR_174954.1:n.330-327G>A (SYNGAP1-AS1)