Canonical Allele Identifier: CA16042666
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373327
ClinVar RCV Id: RCV000412753 RCV000496106 RCV001265346
dbSNP Id: rs1057518352
COSMIC: COSM6106832 COSM6106833
MyVariant Identifiers: chr6:g.33400564C>T (hg19) chr6:g.33432787C>T (hg38)
PubMed: PMID:28708303
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33432787C>T , CM000668.2:g.33432787C>T GRCh38
NC_000006.11:g.33400564C>T , CM000668.1:g.33400564C>T GRCh37
NC_000006.10:g.33508542C>T NCBI36
NG_016137.1:g.17718C>T
NG_016137.2:g.17718C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.232C>T ENSP00000507403.1:p.Arg78Ter
ENST00000418600.7:c.490C>T ENSP00000403636.3:p.Arg164Ter
ENST00000449372.7:c.490C>T ENSP00000416519.4:p.Arg164Ter
ENST00000629380.3:c.490C>T ENSP00000486463.1:p.Arg164Ter
ENST00000638142.2:c.490C>T ENSP00000490803.1:p.Arg164Ter
ENST00000644458.1:c.490C>T ENSP00000495541.1:p.Arg164Ter
ENST00000645250.1:c.313C>T ENSP00000494861.1:p.Arg105Ter
ENST00000646630.1:c.490C>T MANE Select ENSP00000496007.1:p.Arg164Ter
ENST00000293748.9:c.445C>T ENSP00000293748.6:p.Arg149Ter
ENST00000418600.6:c.490C>T ENSP00000403636.3:p.Arg164Ter
ENST00000428982.4:c.313C>T ENSP00000412475.2:p.Arg105Ter
ENST00000449372.6:c.490C>T ENSP00000416519.3:p.Arg164Ter
ENST00000479510.2:n.685C>T
ENST00000628646.2:c.490C>T ENSP00000486431.1:p.Arg164Ter
ENST00000629380.2:c.490C>T ENSP00000486463.1:p.Arg164Ter
NM_006772.2:c.490C>T NP_006763.2:p.Arg164Ter
NM_001130066.1:c.490C>T NP_001123538.1:p.Arg164Ter
NM_001130066.2:c.490C>T NP_001123538.1:p.Arg164Ter
NM_006772.3:c.490C>T MANE Select NP_006763.2:p.Arg164Ter
Search 100 bp 5'
Search 100 bp 3'