Canonical Allele Identifier: CA3758576
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572204
ClinVar RCV Id: RCV003314089
dbSNP Id: rs769024348
gnomAD v2: 6-33405544-G-A
gnomAD v3: 6-33437767-G-A
gnomAD v4: 6-33437767-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33437767G>A , CM000668.2:g.33437767G>A GRCh38
NC_000006.11:g.33405544G>A , CM000668.1:g.33405544G>A GRCh37
NC_000006.10:g.33513522G>A NCBI36
NG_016137.1:g.22698G>A
NG_016137.2:g.22698G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.604G>A (SYNGAP1) ENSP00000507403.1:p.Asp202Asn
ENST00000418600.7:c.862G>A (SYNGAP1) ENSP00000403636.3:p.Asp288Asn
ENST00000449372.7:c.862G>A (SYNGAP1) ENSP00000416519.4:p.Asp288Asn
ENST00000629380.3:c.862G>A (SYNGAP1) ENSP00000486463.1:p.Asp288Asn
ENST00000638142.2:c.862G>A (SYNGAP1) ENSP00000490803.1:p.Asp288Asn
ENST00000644458.1:c.862G>A (SYNGAP1) ENSP00000495541.1:p.Asp288Asn
ENST00000645250.1:c.685G>A (SYNGAP1) ENSP00000494861.1:p.Asp229Asn
ENST00000646630.1:c.862G>A (SYNGAP1) MANE Select ENSP00000496007.1:p.Asp288Asn
ENST00000293748.9:c.817G>A (SYNGAP1) ENSP00000293748.6:p.Asp273Asn
ENST00000418600.6:c.862G>A (SYNGAP1) ENSP00000403636.3:p.Asp288Asn
ENST00000428982.4:c.685G>A (SYNGAP1) ENSP00000412475.2:p.Asp229Asn
ENST00000449372.6:c.862G>A (SYNGAP1) ENSP00000416519.3:p.Asp288Asn
ENST00000479510.2:n.1057G>A (SYNGAP1)
ENST00000628646.2:c.862G>A (SYNGAP1) ENSP00000486431.1:p.Asp288Asn
ENST00000629380.2:c.862G>A (SYNGAP1) ENSP00000486463.1:p.Asp288Asn
NM_006772.2:c.862G>A (SYNGAP1) NP_006763.2:p.Asp288Asn
NM_001130066.1:c.862G>A (SYNGAP1) NP_001123538.1:p.Asp288Asn
NM_001130066.2:c.862G>A (SYNGAP1) NP_001123538.1:p.Asp288Asn
NM_006772.3:c.862G>A (SYNGAP1) MANE Select NP_006763.2:p.Asp288Asn
NR_174954.1:n.330-286C>T (SYNGAP1-AS1)