Canonical Allele Identifier: CA363622436

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 943451
• ClinVar RCV Id: RCV001213641
• dbSNP Id: rs1761036812
• MyVariant Identifiers: chr6:g.33409104T>C (hg19) ; chr6:g.33441327T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33441327T>C , CM000668.2:g.33441327T>C	GRCh38
NC_000006.11:g.33409104T>C , CM000668.1:g.33409104T>C	GRCh37
NC_000006.10:g.33517082T>C	NCBI36
NG_016137.1:g.26258T>C
NG_016137.2:g.26258T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.1810T>C (SYNGAP1)	ENSP00000507403.1:p.Ser604Pro
ENST00000418600.7:c.2068T>C (SYNGAP1)	ENSP00000403636.3:p.Ser690Pro
ENST00000449372.7:c.2068T>C (SYNGAP1)	ENSP00000416519.4:p.Ser690Pro
ENST00000629380.3:c.2068T>C (SYNGAP1)	ENSP00000486463.1:p.Ser690Pro
ENST00000636193.1:n.20T>C (SYNGAP1)
ENST00000638142.2:c.*465T>C (SYNGAP1)	ENSP00000490803.1:n.*465T>C
ENST00000644458.1:c.2068T>C (SYNGAP1)	ENSP00000495541.1:p.Ser690Pro
ENST00000645250.1:c.1891T>C (SYNGAP1)	ENSP00000494861.1:p.Ser631Pro
ENST00000646630.1:c.2068T>C (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ser690Pro
ENST00000293748.9:c.2023T>C (SYNGAP1)	ENSP00000293748.6:p.Ser675Pro
ENST00000418600.6:c.2068T>C (SYNGAP1)	ENSP00000403636.3:p.Ser690Pro
ENST00000428982.4:c.1891T>C (SYNGAP1)	ENSP00000412475.2:p.Ser631Pro
ENST00000449372.6:c.2068T>C (SYNGAP1)	ENSP00000416519.3:p.Ser690Pro
ENST00000628646.2:c.2068T>C (SYNGAP1)	ENSP00000486431.1:p.Ser690Pro
ENST00000629380.2:c.2068T>C (SYNGAP1)	ENSP00000486463.1:p.Ser690Pro
NM_006772.2:c.2068T>C (SYNGAP1)	NP_006763.2:p.Ser690Pro
NM_001130066.1:c.2068T>C (SYNGAP1)	NP_001123538.1:p.Ser690Pro
NM_001130066.2:c.2068T>C (SYNGAP1)	NP_001123538.1:p.Ser690Pro
NM_006772.3:c.2068T>C (SYNGAP1) MANE Select	NP_006763.2:p.Ser690Pro
NR_174954.1:n.330-3846A>G (SYNGAP1-AS1)