Canonical Allele Identifier: CA450103732
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33410909T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443132T>A , CM000668.2:g.33443132T>A GRCh38
NC_000006.11:g.33410909T>A , CM000668.1:g.33410909T>A GRCh37
NC_000006.10:g.33518887T>A NCBI36
NG_016137.1:g.28063T>A
NG_016137.2:g.28063T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.2322T>A (SYNGAP1) ENSP00000507403.1:p.Val774=
ENST00000418600.7:c.2580T>A (SYNGAP1) ENSP00000403636.3:p.Val860=
ENST00000449372.7:c.2538T>A (SYNGAP1) ENSP00000416519.4:p.Val846=
ENST00000629380.3:c.2580T>A (SYNGAP1) ENSP00000486463.1:p.Val860=
ENST00000644458.1:c.2580T>A (SYNGAP1) ENSP00000495541.1:p.Val860=
ENST00000645250.1:c.2403T>A (SYNGAP1) ENSP00000494861.1:p.Val801=
ENST00000646630.1:c.2580T>A (SYNGAP1) MANE Select ENSP00000496007.1:p.Val860=
ENST00000293748.9:c.2535T>A (SYNGAP1) ENSP00000293748.6:p.Val845=
ENST00000418600.6:c.2580T>A (SYNGAP1) ENSP00000403636.3:p.Val860=
ENST00000428982.4:c.2403T>A (SYNGAP1) ENSP00000412475.2:p.Val801=
ENST00000449372.6:c.2538T>A (SYNGAP1) ENSP00000416519.3:p.Val846=
ENST00000628646.2:c.2580T>A (SYNGAP1) ENSP00000486431.1:p.Val860=
ENST00000629380.2:c.2580T>A (SYNGAP1) ENSP00000486463.1:p.Val860=
NM_006772.2:c.2580T>A (SYNGAP1) NP_006763.2:p.Val860=
NM_001130066.1:c.2538T>A (SYNGAP1) NP_001123538.1:p.Val846=
NM_001130066.2:c.2538T>A (SYNGAP1) NP_001123538.1:p.Val846=
NM_006772.3:c.2580T>A (SYNGAP1) MANE Select NP_006763.2:p.Val860=
NR_174954.1:n.329+3474A>T (SYNGAP1-AS1)