Canonical Allele Identifier: CA155633

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 130526
• ClinVar RCV Id: RCV000118566 ; RCV000860451 ; RCV001689659 ; RCV002312507
• dbSNP Id: rs75579703
• ExAC: 6:33408680 G / A
• gnomAD v2: 6-33408680-G-A
• gnomAD v3: 6-33440903-G-A
• gnomAD v4: 6-33440903-G-A
• MyVariant Identifiers: chr6:g.33408680G>A (hg19) ; chr6:g.33440903G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33440903G>A , CM000668.2:g.33440903G>A	GRCh38
NC_000006.11:g.33408680G>A , CM000668.1:g.33408680G>A	GRCh37
NC_000006.10:g.33516658G>A	NCBI36
NG_016137.1:g.25834G>A
NG_016137.2:g.25834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.1593G>A (SYNGAP1)	ENSP00000507403.1:p.Glu531=
ENST00000418600.7:c.1851G>A (SYNGAP1)	ENSP00000403636.3:p.Glu617=
ENST00000449372.7:c.1851G>A (SYNGAP1)	ENSP00000416519.4:p.Glu617=
ENST00000629380.3:c.1851G>A (SYNGAP1)	ENSP00000486463.1:p.Glu617=
ENST00000638142.2:c.*248G>A (SYNGAP1)	ENSP00000490803.1:n.*248G>A
ENST00000644458.1:c.1851G>A (SYNGAP1)	ENSP00000495541.1:p.Glu617=
ENST00000645250.1:c.1674G>A (SYNGAP1)	ENSP00000494861.1:p.Glu558=
ENST00000646630.1:c.1851G>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Glu617=
ENST00000293748.9:c.1806G>A (SYNGAP1)	ENSP00000293748.6:p.Glu602=
ENST00000418600.6:c.1851G>A (SYNGAP1)	ENSP00000403636.3:p.Glu617=
ENST00000428982.4:c.1674G>A (SYNGAP1)	ENSP00000412475.2:p.Glu558=
ENST00000449372.6:c.1851G>A (SYNGAP1)	ENSP00000416519.3:p.Glu617=
ENST00000628646.2:c.1851G>A (SYNGAP1)	ENSP00000486431.1:p.Glu617=
ENST00000629380.2:c.1851G>A (SYNGAP1)	ENSP00000486463.1:p.Glu617=
NM_006772.2:c.1851G>A (SYNGAP1)	NP_006763.2:p.Glu617=
NM_001130066.1:c.1851G>A (SYNGAP1)	NP_001123538.1:p.Glu617=
NM_001130066.2:c.1851G>A (SYNGAP1)	NP_001123538.1:p.Glu617=
NM_006772.3:c.1851G>A (SYNGAP1) MANE Select	NP_006763.2:p.Glu617=
NR_174954.1:n.330-3422C>T (SYNGAP1-AS1)