Canonical Allele Identifier: CA363694190

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• dbSNP Id: rs1453179933
• gnomAD v2: 6-33408726-C-G
• gnomAD v4: 6-33440949-C-G
• MyVariant Identifiers: chr6:g.33408726C>G (hg19) ; chr6:g.33440949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33440949C>G , CM000668.2:g.33440949C>G	GRCh38
NC_000006.11:g.33408726C>G , CM000668.1:g.33408726C>G	GRCh37
NC_000006.10:g.33516704C>G	NCBI36
NG_016137.1:g.25880C>G
NG_016137.2:g.25880C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.1639C>G (SYNGAP1)	ENSP00000507403.1:p.Leu547Val
ENST00000418600.7:c.1897C>G (SYNGAP1)	ENSP00000403636.3:p.Leu633Val
ENST00000449372.7:c.1897C>G (SYNGAP1)	ENSP00000416519.4:p.Leu633Val
ENST00000629380.3:c.1897C>G (SYNGAP1)	ENSP00000486463.1:p.Leu633Val
ENST00000638142.2:c.*294C>G (SYNGAP1)	ENSP00000490803.1:n.*294C>G
ENST00000644458.1:c.1897C>G (SYNGAP1)	ENSP00000495541.1:p.Leu633Val
ENST00000645250.1:c.1720C>G (SYNGAP1)	ENSP00000494861.1:p.Leu574Val
ENST00000646630.1:c.1897C>G (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu633Val
ENST00000293748.9:c.1852C>G (SYNGAP1)	ENSP00000293748.6:p.Leu618Val
ENST00000418600.6:c.1897C>G (SYNGAP1)	ENSP00000403636.3:p.Leu633Val
ENST00000428982.4:c.1720C>G (SYNGAP1)	ENSP00000412475.2:p.Leu574Val
ENST00000449372.6:c.1897C>G (SYNGAP1)	ENSP00000416519.3:p.Leu633Val
ENST00000628646.2:c.1897C>G (SYNGAP1)	ENSP00000486431.1:p.Leu633Val
ENST00000629380.2:c.1897C>G (SYNGAP1)	ENSP00000486463.1:p.Leu633Val
NM_006772.2:c.1897C>G (SYNGAP1)	NP_006763.2:p.Leu633Val
NM_001130066.1:c.1897C>G (SYNGAP1)	NP_001123538.1:p.Leu633Val
NM_001130066.2:c.1897C>G (SYNGAP1)	NP_001123538.1:p.Leu633Val
NM_006772.3:c.1897C>G (SYNGAP1) MANE Select	NP_006763.2:p.Leu633Val
NR_174954.1:n.330-3468G>C (SYNGAP1-AS1)