Canonical Allele Identifier: CA1620017086
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33446794G= , CM000668.2:g.33446794G= GRCh38
NC_000006.11:g.33414571G= , CM000668.1:g.33414571G= GRCh37
NC_000006.10:g.33522549G= NCBI36
NG_016137.1:g.31725G=
NG_016137.2:g.31725G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.3536+8G= (SYNGAP1) ENSP00000507403.1:n.3536+8G=
ENST00000418600.7:c.3794+8G= (SYNGAP1) ENSP00000403636.3:n.3794+8G=
ENST00000449372.7:c.3746+8G= (SYNGAP1) ENSP00000416519.4:n.3746+8G=
ENST00000629380.3:c.3794+8G= (SYNGAP1) ENSP00000486463.1:n.3794+8G=
ENST00000636436.1:n.76+8G= (SYNGAP1)
ENST00000644458.1:c.3794+8G= (SYNGAP1) ENSP00000495541.1:n.3794+8G=
ENST00000645250.1:c.3617+8G= (SYNGAP1) ENSP00000494861.1:n.3617+8G=
ENST00000646630.1:c.3794+8G= (SYNGAP1) MANE Select ENSP00000496007.1:n.3794+8G=
ENST00000293748.9:c.3749+8G= (SYNGAP1) ENSP00000293748.6:n.3749+8G=
ENST00000418600.6:c.3794+8G= (SYNGAP1) ENSP00000403636.3:n.3794+8G=
ENST00000428982.4:c.3617+8G= (SYNGAP1) ENSP00000412475.2:n.3617+8G=
ENST00000449372.6:c.3746+8G= (SYNGAP1) ENSP00000416519.3:n.3746+8G=
ENST00000470232.1:n.76+8G= (SYNGAP1)
ENST00000628646.2:c.3794+8G= (SYNGAP1) ENSP00000486431.1:n.3794+8G=
ENST00000629380.2:c.3794+8G= (SYNGAP1) ENSP00000486463.1:n.3794+8G=
NM_006772.2:c.3794+8G= (SYNGAP1) NP_006763.2:n.3794+8G=
NM_001130066.1:c.3746+8G= (SYNGAP1) NP_001123538.1:n.3746+8G=
NM_001130066.2:c.3746+8G= (SYNGAP1) NP_001123538.1:n.3746+8G=
NM_006772.3:c.3794+8G= (SYNGAP1) MANE Select NP_006763.2:n.3794+8G=
NR_174954.1:n.141C= (SYNGAP1-AS1)