Canonical Allele Identifier: CA16044320
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375527
ClinVar RCV Id: RCV000416992
dbSNP Id: rs1057519545
MyVariant Identifiers: chr6:g.33403002G>C (hg19) chr6:g.33435225G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33435225G>C , CM000668.2:g.33435225G>C GRCh38
NC_000006.11:g.33403002G>C , CM000668.1:g.33403002G>C GRCh37
NC_000006.10:g.33510980G>C NCBI36
NG_016137.1:g.20156G>C
NG_016137.2:g.20156G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.325G>C ENSP00000507403.1:p.Ala109Pro
ENST00000418600.7:c.583G>C ENSP00000403636.3:p.Ala195Pro
ENST00000449372.7:c.583G>C ENSP00000416519.4:p.Ala195Pro
ENST00000629380.3:c.583G>C ENSP00000486463.1:p.Ala195Pro
ENST00000638142.2:c.583G>C ENSP00000490803.1:p.Ala195Pro
ENST00000644458.1:c.583G>C ENSP00000495541.1:p.Ala195Pro
ENST00000645250.1:c.406G>C ENSP00000494861.1:p.Ala136Pro
ENST00000646630.1:c.583G>C MANE Select ENSP00000496007.1:p.Ala195Pro
ENST00000293748.9:c.538G>C ENSP00000293748.6:p.Ala180Pro
ENST00000418600.6:c.583G>C ENSP00000403636.3:p.Ala195Pro
ENST00000428982.4:c.406G>C ENSP00000412475.2:p.Ala136Pro
ENST00000449372.6:c.583G>C ENSP00000416519.3:p.Ala195Pro
ENST00000479510.2:n.778G>C
ENST00000628646.2:c.583G>C ENSP00000486431.1:p.Ala195Pro
ENST00000629380.2:c.583G>C ENSP00000486463.1:p.Ala195Pro
NM_006772.2:c.583G>C NP_006763.2:p.Ala195Pro
NM_001130066.1:c.583G>C NP_001123538.1:p.Ala195Pro
NM_001130066.2:c.583G>C NP_001123538.1:p.Ala195Pro
NM_006772.3:c.583G>C MANE Select NP_006763.2:p.Ala195Pro
Search 100 bp 5'
Search 100 bp 3'