Canonical Allele Identifier: CA450104093

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 745711
• ClinVar RCV Id: RCV001479113
• dbSNP Id: rs535906467
• gnomAD v2: 6-33411185-C-G
• gnomAD v3: 6-33443408-C-G
• gnomAD v4: 6-33443408-C-G
• MyVariant Identifiers: chr6:g.33411185C>G (hg19) ; chr6:g.33443408C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443408C>G , CM000668.2:g.33443408C>G	GRCh38
NC_000006.11:g.33411185C>G , CM000668.1:g.33411185C>G	GRCh37
NC_000006.10:g.33519163C>G	NCBI36
NG_016137.1:g.28339C>G
NG_016137.2:g.28339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2598C>G (SYNGAP1)	ENSP00000507403.1:p.Gly866=
ENST00000418600.7:c.2856C>G (SYNGAP1)	ENSP00000403636.3:p.Gly952=
ENST00000449372.7:c.2814C>G (SYNGAP1)	ENSP00000416519.4:p.Gly938=
ENST00000629380.3:c.2856C>G (SYNGAP1)	ENSP00000486463.1:p.Gly952=
ENST00000644458.1:c.2856C>G (SYNGAP1)	ENSP00000495541.1:p.Gly952=
ENST00000645250.1:c.2679C>G (SYNGAP1)	ENSP00000494861.1:p.Gly893=
ENST00000646630.1:c.2856C>G (SYNGAP1) MANE Select	ENSP00000496007.1:p.Gly952=
ENST00000293748.9:c.2811C>G (SYNGAP1)	ENSP00000293748.6:p.Gly937=
ENST00000418600.6:c.2856C>G (SYNGAP1)	ENSP00000403636.3:p.Gly952=
ENST00000428982.4:c.2679C>G (SYNGAP1)	ENSP00000412475.2:p.Gly893=
ENST00000449372.6:c.2814C>G (SYNGAP1)	ENSP00000416519.3:p.Gly938=
ENST00000628646.2:c.2856C>G (SYNGAP1)	ENSP00000486431.1:p.Gly952=
ENST00000629380.2:c.2856C>G (SYNGAP1)	ENSP00000486463.1:p.Gly952=
NM_006772.2:c.2856C>G (SYNGAP1)	NP_006763.2:p.Gly952=
NM_001130066.1:c.2814C>G (SYNGAP1)	NP_001123538.1:p.Gly938=
NM_001130066.2:c.2814C>G (SYNGAP1)	NP_001123538.1:p.Gly938=
NM_006772.3:c.2856C>G (SYNGAP1) MANE Select	NP_006763.2:p.Gly952=
NR_174954.1:n.329+3198G>C (SYNGAP1-AS1)