Canonical Allele Identifier: CA16618281
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422233
ClinVar RCV Id: RCV000482286
dbSNP Id: rs1064795645

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33440815T>A , CM000668.2:g.33440815T>A GRCh38
NC_000006.11:g.33408592T>A , CM000668.1:g.33408592T>A GRCh37
NC_000006.10:g.33516570T>A NCBI36
NG_016137.1:g.25746T>A
NG_016137.2:g.25746T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.1505T>A (SYNGAP1) ENSP00000507403.1:p.Leu502His
ENST00000418600.7:c.1763T>A (SYNGAP1) ENSP00000403636.3:p.Leu588His
ENST00000449372.7:c.1763T>A (SYNGAP1) ENSP00000416519.4:p.Leu588His
ENST00000629380.3:c.1763T>A (SYNGAP1) ENSP00000486463.1:p.Leu588His
ENST00000638142.2:c.*160T>A (SYNGAP1) ENSP00000490803.1:n.*160T>A
ENST00000644458.1:c.1763T>A (SYNGAP1) ENSP00000495541.1:p.Leu588His
ENST00000645250.1:c.1586T>A (SYNGAP1) ENSP00000494861.1:p.Leu529His
ENST00000646630.1:c.1763T>A (SYNGAP1) MANE Select ENSP00000496007.1:p.Leu588His
ENST00000293748.9:c.1718T>A (SYNGAP1) ENSP00000293748.6:p.Leu573His
ENST00000418600.6:c.1763T>A (SYNGAP1) ENSP00000403636.3:p.Leu588His
ENST00000428982.4:c.1586T>A (SYNGAP1) ENSP00000412475.2:p.Leu529His
ENST00000449372.6:c.1763T>A (SYNGAP1) ENSP00000416519.3:p.Leu588His
ENST00000628646.2:c.1763T>A (SYNGAP1) ENSP00000486431.1:p.Leu588His
ENST00000629380.2:c.1763T>A (SYNGAP1) ENSP00000486463.1:p.Leu588His
NM_006772.2:c.1763T>A (SYNGAP1) NP_006763.2:p.Leu588His
NM_001130066.1:c.1763T>A (SYNGAP1) NP_001123538.1:p.Leu588His
NM_001130066.2:c.1763T>A (SYNGAP1) NP_001123538.1:p.Leu588His
NM_006772.3:c.1763T>A (SYNGAP1) MANE Select NP_006763.2:p.Leu588His
NR_174954.1:n.330-3334A>T (SYNGAP1-AS1)