Canonical Allele Identifier: CA3758970

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• dbSNP Id: rs763543986
• ExAC: 6:33411309 A / G
• gnomAD v2: 6-33411309-A-G
• gnomAD v4: 6-33443532-A-G
• MyVariant Identifiers: chr6:g.33411309A>G (hg19) ; chr6:g.33443532A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443532A>G , CM000668.2:g.33443532A>G	GRCh38
NC_000006.11:g.33411309A>G , CM000668.1:g.33411309A>G	GRCh37
NC_000006.10:g.33519287A>G	NCBI36
NG_016137.1:g.28463A>G
NG_016137.2:g.28463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2722A>G (SYNGAP1)	ENSP00000507403.1:p.Lys908Glu
ENST00000418600.7:c.2980A>G (SYNGAP1)	ENSP00000403636.3:p.Lys994Glu
ENST00000449372.7:c.2938A>G (SYNGAP1)	ENSP00000416519.4:p.Lys980Glu
ENST00000629380.3:c.2980A>G (SYNGAP1)	ENSP00000486463.1:p.Lys994Glu
ENST00000644458.1:c.2980A>G (SYNGAP1)	ENSP00000495541.1:p.Lys994Glu
ENST00000645250.1:c.2803A>G (SYNGAP1)	ENSP00000494861.1:p.Lys935Glu
ENST00000646630.1:c.2980A>G (SYNGAP1) MANE Select	ENSP00000496007.1:p.Lys994Glu
ENST00000293748.9:c.2935A>G (SYNGAP1)	ENSP00000293748.6:p.Lys979Glu
ENST00000418600.6:c.2980A>G (SYNGAP1)	ENSP00000403636.3:p.Lys994Glu
ENST00000428982.4:c.2803A>G (SYNGAP1)	ENSP00000412475.2:p.Lys935Glu
ENST00000449372.6:c.2938A>G (SYNGAP1)	ENSP00000416519.3:p.Lys980Glu
ENST00000628646.2:c.2980A>G (SYNGAP1)	ENSP00000486431.1:p.Lys994Glu
ENST00000629380.2:c.2980A>G (SYNGAP1)	ENSP00000486463.1:p.Lys994Glu
NM_006772.2:c.2980A>G (SYNGAP1)	NP_006763.2:p.Lys994Glu
NM_001130066.1:c.2938A>G (SYNGAP1)	NP_001123538.1:p.Lys980Glu
NM_001130066.2:c.2938A>G (SYNGAP1)	NP_001123538.1:p.Lys980Glu
NM_006772.3:c.2980A>G (SYNGAP1) MANE Select	NP_006763.2:p.Lys994Glu
NR_174954.1:n.329+3074T>C (SYNGAP1-AS1)