Canonical Allele Identifier: CA450103677

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• dbSNP Id: rs1761092861
• gnomAD v3: 6-33443036-A-G
• gnomAD v4: 6-33443036-A-G
• MyVariant Identifiers: chr6:g.33410813A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443036A>G , CM000668.2:g.33443036A>G	GRCh38
NC_000006.11:g.33410813A>G , CM000668.1:g.33410813A>G	GRCh37
NC_000006.10:g.33518791A>G	NCBI36
NG_016137.1:g.27967A>G
NG_016137.2:g.27967A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2226A>G (SYNGAP1)	ENSP00000507403.1:p.Thr742=
ENST00000418600.7:c.2484A>G (SYNGAP1)	ENSP00000403636.3:p.Thr828=
ENST00000449372.7:c.2442A>G (SYNGAP1)	ENSP00000416519.4:p.Thr814=
ENST00000629380.3:c.2484A>G (SYNGAP1)	ENSP00000486463.1:p.Thr828=
ENST00000644458.1:c.2484A>G (SYNGAP1)	ENSP00000495541.1:p.Thr828=
ENST00000645250.1:c.2307A>G (SYNGAP1)	ENSP00000494861.1:p.Thr769=
ENST00000646630.1:c.2484A>G (SYNGAP1) MANE Select	ENSP00000496007.1:p.Thr828=
ENST00000293748.9:c.2439A>G (SYNGAP1)	ENSP00000293748.6:p.Thr813=
ENST00000418600.6:c.2484A>G (SYNGAP1)	ENSP00000403636.3:p.Thr828=
ENST00000428982.4:c.2307A>G (SYNGAP1)	ENSP00000412475.2:p.Thr769=
ENST00000449372.6:c.2442A>G (SYNGAP1)	ENSP00000416519.3:p.Thr814=
ENST00000628646.2:c.2484A>G (SYNGAP1)	ENSP00000486431.1:p.Thr828=
ENST00000629380.2:c.2484A>G (SYNGAP1)	ENSP00000486463.1:p.Thr828=
NM_006772.2:c.2484A>G (SYNGAP1)	NP_006763.2:p.Thr828=
NM_001130066.1:c.2442A>G (SYNGAP1)	NP_001123538.1:p.Thr814=
NM_001130066.2:c.2442A>G (SYNGAP1)	NP_001123538.1:p.Thr814=
NM_006772.3:c.2484A>G (SYNGAP1) MANE Select	NP_006763.2:p.Thr828=
NR_174954.1:n.329+3570T>C (SYNGAP1-AS1)