Canonical Allele Identifier: CA363623192

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• dbSNP Id: rs1761046414
• gnomAD v3: 6-33441621-A-G
• gnomAD v4: 6-33441621-A-G
• MyVariant Identifiers: chr6:g.33409398A>G (hg19) ; chr6:g.33441621A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33441621A>G , CM000668.2:g.33441621A>G	GRCh38
NC_000006.11:g.33409398A>G , CM000668.1:g.33409398A>G	GRCh37
NC_000006.10:g.33517376A>G	NCBI36
NG_016137.1:g.26552A>G
NG_016137.2:g.26552A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.1898A>G (SYNGAP1)	ENSP00000507403.1:p.Asn633Ser
ENST00000418600.7:c.2156A>G (SYNGAP1)	ENSP00000403636.3:p.Asn719Ser
ENST00000449372.7:c.2156A>G (SYNGAP1)	ENSP00000416519.4:p.Asn719Ser
ENST00000629380.3:c.2156A>G (SYNGAP1)	ENSP00000486463.1:p.Asn719Ser
ENST00000638142.2:c.*553A>G (SYNGAP1)	ENSP00000490803.1:n.*553A>G
ENST00000644458.1:c.2156A>G (SYNGAP1)	ENSP00000495541.1:p.Asn719Ser
ENST00000645250.1:c.1979A>G (SYNGAP1)	ENSP00000494861.1:p.Asn660Ser
ENST00000646630.1:c.2156A>G (SYNGAP1) MANE Select	ENSP00000496007.1:p.Asn719Ser
ENST00000293748.9:c.2111A>G (SYNGAP1)	ENSP00000293748.6:p.Asn704Ser
ENST00000418600.6:c.2156A>G (SYNGAP1)	ENSP00000403636.3:p.Asn719Ser
ENST00000428982.4:c.1979A>G (SYNGAP1)	ENSP00000412475.2:p.Asn660Ser
ENST00000449372.6:c.2156A>G (SYNGAP1)	ENSP00000416519.3:p.Asn719Ser
ENST00000628646.2:c.2156A>G (SYNGAP1)	ENSP00000486431.1:p.Asn719Ser
ENST00000629380.2:c.2156A>G (SYNGAP1)	ENSP00000486463.1:p.Asn719Ser
NM_006772.2:c.2156A>G (SYNGAP1)	NP_006763.2:p.Asn719Ser
NM_001130066.1:c.2156A>G (SYNGAP1)	NP_001123538.1:p.Asn719Ser
NM_001130066.2:c.2156A>G (SYNGAP1)	NP_001123538.1:p.Asn719Ser
NM_006772.3:c.2156A>G (SYNGAP1) MANE Select	NP_006763.2:p.Asn719Ser
NR_174954.1:n.330-4140T>C (SYNGAP1-AS1)