Canonical Allele Identifier: CA363685201

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 975473
• ClinVar RCV Id: RCV001252123
• dbSNP Id: rs1760890843
• MyVariant Identifiers: chr6:g.33405612G>C (hg19) ; chr6:g.33437835G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33437835G>C , CM000668.2:g.33437835G>C	GRCh38
NC_000006.11:g.33405612G>C , CM000668.1:g.33405612G>C	GRCh37
NC_000006.10:g.33513590G>C	NCBI36
NG_016137.1:g.22766G>C
NG_016137.2:g.22766G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.672G>C (SYNGAP1)	ENSP00000507403.1:p.Glu224Asp
ENST00000418600.7:c.930G>C (SYNGAP1)	ENSP00000403636.3:p.Glu310Asp
ENST00000449372.7:c.930G>C (SYNGAP1)	ENSP00000416519.4:p.Glu310Asp
ENST00000629380.3:c.930G>C (SYNGAP1)	ENSP00000486463.1:p.Glu310Asp
ENST00000638142.2:c.930G>C (SYNGAP1)	ENSP00000490803.1:p.Glu310Asp
ENST00000644458.1:c.930G>C (SYNGAP1)	ENSP00000495541.1:p.Glu310Asp
ENST00000645250.1:c.753G>C (SYNGAP1)	ENSP00000494861.1:p.Glu251Asp
ENST00000646630.1:c.930G>C (SYNGAP1) MANE Select	ENSP00000496007.1:p.Glu310Asp
ENST00000293748.9:c.885G>C (SYNGAP1)	ENSP00000293748.6:p.Glu295Asp
ENST00000418600.6:c.930G>C (SYNGAP1)	ENSP00000403636.3:p.Glu310Asp
ENST00000428982.4:c.753G>C (SYNGAP1)	ENSP00000412475.2:p.Glu251Asp
ENST00000449372.6:c.930G>C (SYNGAP1)	ENSP00000416519.3:p.Glu310Asp
ENST00000479510.2:n.1125G>C (SYNGAP1)
ENST00000628646.2:c.930G>C (SYNGAP1)	ENSP00000486431.1:p.Glu310Asp
ENST00000629380.2:c.930G>C (SYNGAP1)	ENSP00000486463.1:p.Glu310Asp
NM_006772.2:c.930G>C (SYNGAP1)	NP_006763.2:p.Glu310Asp
NM_001130066.1:c.930G>C (SYNGAP1)	NP_001123538.1:p.Glu310Asp
NM_001130066.2:c.930G>C (SYNGAP1)	NP_001123538.1:p.Glu310Asp
NM_006772.3:c.930G>C (SYNGAP1) MANE Select	NP_006763.2:p.Glu310Asp
NR_174954.1:n.330-354C>G (SYNGAP1-AS1)