Canonical Allele Identifier: CA1087662402
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1121283
ClinVar RCV Id: RCV001451491
dbSNP Id: rs1761207395
gnomAD v3: 6-33446571-G-A
gnomAD v4: 6-33446571-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33446571G>A , CM000668.2:g.33446571G>A GRCh38
NC_000006.11:g.33414348G>A , CM000668.1:g.33414348G>A GRCh37
NC_000006.10:g.33522326G>A NCBI36
NG_016137.1:g.31502G>A
NG_016137.2:g.31502G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.3325-4G>A (SYNGAP1) ENSP00000507403.1:n.3325-4G>A
ENST00000418600.7:c.3583-4G>A (SYNGAP1) ENSP00000403636.3:n.3583-4G>A
ENST00000449372.7:c.3541-10G>A (SYNGAP1) ENSP00000416519.4:n.3541-10G>A
ENST00000629380.3:c.3583-4G>A (SYNGAP1) ENSP00000486463.1:n.3583-4G>A
ENST00000644458.1:c.3583-4G>A (SYNGAP1) ENSP00000495541.1:n.3583-4G>A
ENST00000645250.1:c.3406-4G>A (SYNGAP1) ENSP00000494861.1:n.3406-4G>A
ENST00000646630.1:c.3583-4G>A (SYNGAP1) MANE Select ENSP00000496007.1:n.3583-4G>A
ENST00000293748.9:c.3538-4G>A (SYNGAP1) ENSP00000293748.6:n.3538-4G>A
ENST00000418600.6:c.3583-4G>A (SYNGAP1) ENSP00000403636.3:n.3583-4G>A
ENST00000428982.4:c.3406-4G>A (SYNGAP1) ENSP00000412475.2:n.3406-4G>A
ENST00000449372.6:c.3541-10G>A (SYNGAP1) ENSP00000416519.3:n.3541-10G>A
ENST00000628646.2:c.3583-4G>A (SYNGAP1) ENSP00000486431.1:n.3583-4G>A
ENST00000629380.2:c.3583-4G>A (SYNGAP1) ENSP00000486463.1:n.3583-4G>A
NM_006772.2:c.3583-4G>A (SYNGAP1) NP_006763.2:n.3583-4G>A
NM_001130066.1:c.3541-10G>A (SYNGAP1) NP_001123538.1:n.3541-10G>A
NM_001130066.2:c.3541-10G>A (SYNGAP1) NP_001123538.1:n.3541-10G>A
NM_006772.3:c.3583-4G>A (SYNGAP1) MANE Select NP_006763.2:n.3583-4G>A
NR_174954.1:n.329+35C>T (SYNGAP1-AS1)