Canonical Allele Identifier: CA3758716

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 1450275
• ClinVar RCV Id: RCV002014720
• dbSNP Id: rs765714815
• ExAC: 6:33408648 C / G
• gnomAD v2: 6-33408648-C-G
• gnomAD v3: 6-33440871-C-G
• gnomAD v4: 6-33440871-C-G
• MyVariant Identifiers: chr6:g.33408648C>G (hg19) ; chr6:g.33440871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33440871C>G , CM000668.2:g.33440871C>G	GRCh38
NC_000006.11:g.33408648C>G , CM000668.1:g.33408648C>G	GRCh37
NC_000006.10:g.33516626C>G	NCBI36
NG_016137.1:g.25802C>G
NG_016137.2:g.25802C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.1561C>G (SYNGAP1)	ENSP00000507403.1:p.Leu521Val
ENST00000418600.7:c.1819C>G (SYNGAP1)	ENSP00000403636.3:p.Leu607Val
ENST00000449372.7:c.1819C>G (SYNGAP1)	ENSP00000416519.4:p.Leu607Val
ENST00000629380.3:c.1819C>G (SYNGAP1)	ENSP00000486463.1:p.Leu607Val
ENST00000638142.2:c.*216C>G (SYNGAP1)	ENSP00000490803.1:n.*216C>G
ENST00000644458.1:c.1819C>G (SYNGAP1)	ENSP00000495541.1:p.Leu607Val
ENST00000645250.1:c.1642C>G (SYNGAP1)	ENSP00000494861.1:p.Leu548Val
ENST00000646630.1:c.1819C>G (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu607Val
ENST00000293748.9:c.1774C>G (SYNGAP1)	ENSP00000293748.6:p.Leu592Val
ENST00000418600.6:c.1819C>G (SYNGAP1)	ENSP00000403636.3:p.Leu607Val
ENST00000428982.4:c.1642C>G (SYNGAP1)	ENSP00000412475.2:p.Leu548Val
ENST00000449372.6:c.1819C>G (SYNGAP1)	ENSP00000416519.3:p.Leu607Val
ENST00000628646.2:c.1819C>G (SYNGAP1)	ENSP00000486431.1:p.Leu607Val
ENST00000629380.2:c.1819C>G (SYNGAP1)	ENSP00000486463.1:p.Leu607Val
NM_006772.2:c.1819C>G (SYNGAP1)	NP_006763.2:p.Leu607Val
NM_001130066.1:c.1819C>G (SYNGAP1)	NP_001123538.1:p.Leu607Val
NM_001130066.2:c.1819C>G (SYNGAP1)	NP_001123538.1:p.Leu607Val
NM_006772.3:c.1819C>G (SYNGAP1) MANE Select	NP_006763.2:p.Leu607Val
NR_174954.1:n.330-3390G>C (SYNGAP1-AS1)