Canonical Allele Identifier: CA16605532
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391294
ClinVar RCV Id: RCV000433653
dbSNP Id: rs1057524025
MyVariant Identifiers: chr6:g.33405604T>C (hg19) chr6:g.33437827T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33437827T>C , CM000668.2:g.33437827T>C GRCh38
NC_000006.11:g.33405604T>C , CM000668.1:g.33405604T>C GRCh37
NC_000006.10:g.33513582T>C NCBI36
NG_016137.1:g.22758T>C
NG_016137.2:g.22758T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.664T>C (SYNGAP1) ENSP00000507403.1:p.Trp222Arg
ENST00000418600.7:c.922T>C (SYNGAP1) ENSP00000403636.3:p.Trp308Arg
ENST00000449372.7:c.922T>C (SYNGAP1) ENSP00000416519.4:p.Trp308Arg
ENST00000629380.3:c.922T>C (SYNGAP1) ENSP00000486463.1:p.Trp308Arg
ENST00000638142.2:c.922T>C (SYNGAP1) ENSP00000490803.1:p.Trp308Arg
ENST00000644458.1:c.922T>C (SYNGAP1) ENSP00000495541.1:p.Trp308Arg
ENST00000645250.1:c.745T>C (SYNGAP1) ENSP00000494861.1:p.Trp249Arg
ENST00000646630.1:c.922T>C (SYNGAP1) MANE Select ENSP00000496007.1:p.Trp308Arg
ENST00000293748.9:c.877T>C (SYNGAP1) ENSP00000293748.6:p.Trp293Arg
ENST00000418600.6:c.922T>C (SYNGAP1) ENSP00000403636.3:p.Trp308Arg
ENST00000428982.4:c.745T>C (SYNGAP1) ENSP00000412475.2:p.Trp249Arg
ENST00000449372.6:c.922T>C (SYNGAP1) ENSP00000416519.3:p.Trp308Arg
ENST00000479510.2:n.1117T>C (SYNGAP1)
ENST00000628646.2:c.922T>C (SYNGAP1) ENSP00000486431.1:p.Trp308Arg
ENST00000629380.2:c.922T>C (SYNGAP1) ENSP00000486463.1:p.Trp308Arg
NM_006772.2:c.922T>C (SYNGAP1) NP_006763.2:p.Trp308Arg
NM_001130066.1:c.922T>C (SYNGAP1) NP_001123538.1:p.Trp308Arg
NM_001130066.2:c.922T>C (SYNGAP1) NP_001123538.1:p.Trp308Arg
NM_006772.3:c.922T>C (SYNGAP1) MANE Select NP_006763.2:p.Trp308Arg
NR_174954.1:n.330-346A>G (SYNGAP1-AS1)
Search 100 bp 5'
Search 100 bp 3'