Canonical Allele Identifier: CA363690376
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522845
dbSNP Id: rs1554121443

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33438873C>T , CM000668.2:g.33438873C>T GRCh38
NC_000006.11:g.33406650C>T , CM000668.1:g.33406650C>T GRCh37
NC_000006.10:g.33514628C>T NCBI36
NG_016137.1:g.23804C>T
NG_016137.2:g.23804C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.1372C>T (SYNGAP1) ENSP00000507403.1:p.Arg458Ter
ENST00000418600.7:c.1630C>T (SYNGAP1) ENSP00000403636.3:p.Arg544Ter
ENST00000449372.7:c.1630C>T (SYNGAP1) ENSP00000416519.4:p.Arg544Ter
ENST00000629380.3:c.1630C>T (SYNGAP1) ENSP00000486463.1:p.Arg544Ter
ENST00000638142.2:c.1630C>T (SYNGAP1) ENSP00000490803.1:p.Arg544Ter
ENST00000644458.1:c.1630C>T (SYNGAP1) ENSP00000495541.1:p.Arg544Ter
ENST00000645250.1:c.1453C>T (SYNGAP1) ENSP00000494861.1:p.Arg485Ter
ENST00000646630.1:c.1630C>T (SYNGAP1) MANE Select ENSP00000496007.1:p.Arg544Ter
ENST00000293748.9:c.1585C>T (SYNGAP1) ENSP00000293748.6:p.Arg529Ter
ENST00000418600.6:c.1630C>T (SYNGAP1) ENSP00000403636.3:p.Arg544Ter
ENST00000428982.4:c.1453C>T (SYNGAP1) ENSP00000412475.2:p.Arg485Ter
ENST00000449372.6:c.1630C>T (SYNGAP1) ENSP00000416519.3:p.Arg544Ter
ENST00000479510.2:n.1825C>T (SYNGAP1)
ENST00000495633.1:n.191C>T (SYNGAP1)
ENST00000628646.2:c.1630C>T (SYNGAP1) ENSP00000486431.1:p.Arg544Ter
ENST00000629380.2:c.1630C>T (SYNGAP1) ENSP00000486463.1:p.Arg544Ter
NM_006772.2:c.1630C>T (SYNGAP1) NP_006763.2:p.Arg544Ter
NM_001130066.1:c.1630C>T (SYNGAP1) NP_001123538.1:p.Arg544Ter
NM_001130066.2:c.1630C>T (SYNGAP1) NP_001123538.1:p.Arg544Ter
NM_006772.3:c.1630C>T (SYNGAP1) MANE Select NP_006763.2:p.Arg544Ter
NR_174954.1:n.330-1392G>A (SYNGAP1-AS1)