Canonical Allele Identifier: CA363680472
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430834
ClinVar RCV Id: RCV000495902 RCV000623941 RCV001205064 RCV001541131
dbSNP Id: rs1131692154
gnomAD v2: 6-33400477-C-T
MyVariant Identifiers: chr6:g.33400477C>T (hg19) chr6:g.33432700C>T (hg38)
PubMed: PMID:15312654 PMID:19196676 PMID:20531469 PMID:21237447 PMID:21376300 PMID:22604720 PMID:23020937 PMID:23033978 PMID:23141534 PMID:23161826 PMID:23708187 PMID:23934111 PMID:24267886 PMID:25533962 PMID:26079862 PMID:26989088 PMID:27334371 PMID:27827368 PMID:28576131
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33432700C>T , CM000668.2:g.33432700C>T GRCh38
NC_000006.11:g.33400477C>T , CM000668.1:g.33400477C>T GRCh37
NC_000006.10:g.33508455C>T NCBI36
NG_016137.1:g.17631C>T
NG_016137.2:g.17631C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.145C>T ENSP00000507403.1:p.Arg49Ter
ENST00000418600.7:c.403C>T ENSP00000403636.3:p.Arg135Ter
ENST00000449372.7:c.403C>T ENSP00000416519.4:p.Arg135Ter
ENST00000629380.3:c.403C>T ENSP00000486463.1:p.Arg135Ter
ENST00000638142.2:c.403C>T ENSP00000490803.1:p.Arg135Ter
ENST00000644458.1:c.403C>T ENSP00000495541.1:p.Arg135Ter
ENST00000645250.1:c.226C>T ENSP00000494861.1:p.Arg76Ter
ENST00000646630.1:c.403C>T MANE Select ENSP00000496007.1:p.Arg135Ter
ENST00000293748.9:c.358C>T ENSP00000293748.6:p.Arg120Ter
ENST00000418600.6:c.403C>T ENSP00000403636.3:p.Arg135Ter
ENST00000428982.4:c.226C>T ENSP00000412475.2:p.Arg76Ter
ENST00000449372.6:c.403C>T ENSP00000416519.3:p.Arg135Ter
ENST00000479510.2:n.598C>T
ENST00000628646.2:c.403C>T ENSP00000486431.1:p.Arg135Ter
ENST00000629380.2:c.403C>T ENSP00000486463.1:p.Arg135Ter
NM_006772.2:c.403C>T NP_006763.2:p.Arg135Ter
NM_001130066.1:c.403C>T NP_001123538.1:p.Arg135Ter
NM_001130066.2:c.403C>T NP_001123538.1:p.Arg135Ter
NM_006772.3:c.403C>T MANE Select NP_006763.2:p.Arg135Ter
Search 100 bp 5'
Search 100 bp 3'