Canonical Allele Identifier: CA450104110

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 762326
• ClinVar RCV Id: RCV001413582
• dbSNP Id: rs1581996306
• gnomAD v3: 6-33443441-T-C
• gnomAD v4: 6-33443441-T-C
• COSMIC: COSM3873207 ; COSM3873208
• MyVariant Identifiers: chr6:g.33411218T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443441T>C , CM000668.2:g.33443441T>C	GRCh38
NC_000006.11:g.33411218T>C , CM000668.1:g.33411218T>C	GRCh37
NC_000006.10:g.33519196T>C	NCBI36
NG_016137.1:g.28372T>C
NG_016137.2:g.28372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2631T>C (SYNGAP1)	ENSP00000507403.1:p.His877=
ENST00000418600.7:c.2889T>C (SYNGAP1)	ENSP00000403636.3:p.His963=
ENST00000449372.7:c.2847T>C (SYNGAP1)	ENSP00000416519.4:p.His949=
ENST00000629380.3:c.2889T>C (SYNGAP1)	ENSP00000486463.1:p.His963=
ENST00000644458.1:c.2889T>C (SYNGAP1)	ENSP00000495541.1:p.His963=
ENST00000645250.1:c.2712T>C (SYNGAP1)	ENSP00000494861.1:p.His904=
ENST00000646630.1:c.2889T>C (SYNGAP1) MANE Select	ENSP00000496007.1:p.His963=
ENST00000293748.9:c.2844T>C (SYNGAP1)	ENSP00000293748.6:p.His948=
ENST00000418600.6:c.2889T>C (SYNGAP1)	ENSP00000403636.3:p.His963=
ENST00000428982.4:c.2712T>C (SYNGAP1)	ENSP00000412475.2:p.His904=
ENST00000449372.6:c.2847T>C (SYNGAP1)	ENSP00000416519.3:p.His949=
ENST00000628646.2:c.2889T>C (SYNGAP1)	ENSP00000486431.1:p.His963=
ENST00000629380.2:c.2889T>C (SYNGAP1)	ENSP00000486463.1:p.His963=
NM_006772.2:c.2889T>C (SYNGAP1)	NP_006763.2:p.His963=
NM_001130066.1:c.2847T>C (SYNGAP1)	NP_001123538.1:p.His949=
NM_001130066.2:c.2847T>C (SYNGAP1)	NP_001123538.1:p.His949=
NM_006772.3:c.2889T>C (SYNGAP1) MANE Select	NP_006763.2:p.His963=
NR_174954.1:n.329+3165A>G (SYNGAP1-AS1)