Canonical Allele Identifier: CA209018
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212352
dbSNP Id: rs141341400
gnomAD v2: 6-33411174-G-A
gnomAD v3: 6-33443397-G-A
gnomAD v4: 6-33443397-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443397G>A , CM000668.2:g.33443397G>A GRCh38
NC_000006.11:g.33411174G>A , CM000668.1:g.33411174G>A GRCh37
NC_000006.10:g.33519152G>A NCBI36
NG_016137.1:g.28328G>A
NG_016137.2:g.28328G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.2587G>A (SYNGAP1) ENSP00000507403.1:p.Gly863Ser
ENST00000418600.7:c.2845G>A (SYNGAP1) ENSP00000403636.3:p.Gly949Ser
ENST00000449372.7:c.2803G>A (SYNGAP1) ENSP00000416519.4:p.Gly935Ser
ENST00000629380.3:c.2845G>A (SYNGAP1) ENSP00000486463.1:p.Gly949Ser
ENST00000644458.1:c.2845G>A (SYNGAP1) ENSP00000495541.1:p.Gly949Ser
ENST00000645250.1:c.2668G>A (SYNGAP1) ENSP00000494861.1:p.Gly890Ser
ENST00000646630.1:c.2845G>A (SYNGAP1) MANE Select ENSP00000496007.1:p.Gly949Ser
ENST00000293748.9:c.2800G>A (SYNGAP1) ENSP00000293748.6:p.Gly934Ser
ENST00000418600.6:c.2845G>A (SYNGAP1) ENSP00000403636.3:p.Gly949Ser
ENST00000428982.4:c.2668G>A (SYNGAP1) ENSP00000412475.2:p.Gly890Ser
ENST00000449372.6:c.2803G>A (SYNGAP1) ENSP00000416519.3:p.Gly935Ser
ENST00000628646.2:c.2845G>A (SYNGAP1) ENSP00000486431.1:p.Gly949Ser
ENST00000629380.2:c.2845G>A (SYNGAP1) ENSP00000486463.1:p.Gly949Ser
NM_006772.2:c.2845G>A (SYNGAP1) NP_006763.2:p.Gly949Ser
NM_001130066.1:c.2803G>A (SYNGAP1) NP_001123538.1:p.Gly935Ser
NM_001130066.2:c.2803G>A (SYNGAP1) NP_001123538.1:p.Gly935Ser
NM_006772.3:c.2845G>A (SYNGAP1) MANE Select NP_006763.2:p.Gly949Ser
NR_174954.1:n.329+3209C>T (SYNGAP1-AS1)