Canonical Allele Identifier: CA358213
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225077
ClinVar RCV Id: RCV000210697 RCV000679896 RCV000760502 RCV001265530
dbSNP Id: rs869312955
MyVariant Identifiers: chr6:g.33414487C>T (hg19) chr6:g.33446710C>T (hg38)
PubMed: PMID:26795593
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33446710C>T , CM000668.2:g.33446710C>T GRCh38
NC_000006.11:g.33414487C>T , CM000668.1:g.33414487C>T GRCh37
NC_000006.10:g.33522465C>T NCBI36
NG_016137.1:g.31641C>T
NG_016137.2:g.31641C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.3460C>T (SYNGAP1) ENSP00000507403.1:p.Arg1154Ter
ENST00000418600.7:c.3718C>T (SYNGAP1) ENSP00000403636.3:p.Arg1240Ter
ENST00000449372.7:c.3670C>T (SYNGAP1) ENSP00000416519.4:p.Arg1224Ter
ENST00000629380.3:c.3718C>T (SYNGAP1) ENSP00000486463.1:p.Arg1240Ter
ENST00000644458.1:c.3718C>T (SYNGAP1) ENSP00000495541.1:p.Arg1240Ter
ENST00000645250.1:c.3541C>T (SYNGAP1) ENSP00000494861.1:p.Arg1181Ter
ENST00000646630.1:c.3718C>T (SYNGAP1) MANE Select ENSP00000496007.1:p.Arg1240Ter
ENST00000293748.9:c.3673C>T (SYNGAP1) ENSP00000293748.6:p.Arg1225Ter
ENST00000418600.6:c.3718C>T (SYNGAP1) ENSP00000403636.3:p.Arg1240Ter
ENST00000428982.4:c.3541C>T (SYNGAP1) ENSP00000412475.2:p.Arg1181Ter
ENST00000449372.6:c.3670C>T (SYNGAP1) ENSP00000416519.3:p.Arg1224Ter
ENST00000628646.2:c.3718C>T (SYNGAP1) ENSP00000486431.1:p.Arg1240Ter
ENST00000629380.2:c.3718C>T (SYNGAP1) ENSP00000486463.1:p.Arg1240Ter
NM_006772.2:c.3718C>T (SYNGAP1) NP_006763.2:p.Arg1240Ter
NM_001130066.1:c.3670C>T (SYNGAP1) NP_001123538.1:p.Arg1224Ter
NM_001130066.2:c.3670C>T (SYNGAP1) NP_001123538.1:p.Arg1224Ter
NM_006772.3:c.3718C>T (SYNGAP1) MANE Select NP_006763.2:p.Arg1240Ter
NR_174954.1:n.225G>A (SYNGAP1-AS1)
Search 100 bp 5'
Search 100 bp 3'