Canonical Allele Identifier: CA1620013752
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33441318C= , CM000668.2:g.33441318C= GRCh38
NC_000006.11:g.33409095C= , CM000668.1:g.33409095C= GRCh37
NC_000006.10:g.33517073C= NCBI36
NG_016137.1:g.26249C=
NG_016137.2:g.26249C=

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.1801C= (SYNGAP1) ENSP00000507403.1:p.Arg601=
ENST00000418600.7:c.2059C= (SYNGAP1) ENSP00000403636.3:p.Arg687=
ENST00000449372.7:c.2059C= (SYNGAP1) ENSP00000416519.4:p.Arg687=
ENST00000629380.3:c.2059C= (SYNGAP1) ENSP00000486463.1:p.Arg687=
ENST00000636193.1:n.11C= (SYNGAP1)
ENST00000638142.2:c.*456C= (SYNGAP1) ENSP00000490803.1:n.*456C=
ENST00000644458.1:c.2059C= (SYNGAP1) ENSP00000495541.1:p.Arg687=
ENST00000645250.1:c.1882C= (SYNGAP1) ENSP00000494861.1:p.Arg628=
ENST00000646630.1:c.2059C= (SYNGAP1) MANE Select ENSP00000496007.1:p.Arg687=
ENST00000293748.9:c.2014C= (SYNGAP1) ENSP00000293748.6:p.Arg672=
ENST00000418600.6:c.2059C= (SYNGAP1) ENSP00000403636.3:p.Arg687=
ENST00000428982.4:c.1882C= (SYNGAP1) ENSP00000412475.2:p.Arg628=
ENST00000449372.6:c.2059C= (SYNGAP1) ENSP00000416519.3:p.Arg687=
ENST00000628646.2:c.2059C= (SYNGAP1) ENSP00000486431.1:p.Arg687=
ENST00000629380.2:c.2059C= (SYNGAP1) ENSP00000486463.1:p.Arg687=
NM_006772.2:c.2059C= (SYNGAP1) NP_006763.2:p.Arg687=
NM_001130066.1:c.2059C= (SYNGAP1) NP_001123538.1:p.Arg687=
NM_001130066.2:c.2059C= (SYNGAP1) NP_001123538.1:p.Arg687=
NM_006772.3:c.2059C= (SYNGAP1) MANE Select NP_006763.2:p.Arg687=
NR_174954.1:n.330-3837G= (SYNGAP1-AS1)