Canonical Allele Identifier: CA363628784

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• dbSNP Id: rs1259713410
• gnomAD v2: 6-33411163-A-T
• gnomAD v4: 6-33443386-A-T
• MyVariant Identifiers: chr6:g.33411163A>T (hg19) ; chr6:g.33443386A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443386A>T , CM000668.2:g.33443386A>T	GRCh38
NC_000006.11:g.33411163A>T , CM000668.1:g.33411163A>T	GRCh37
NC_000006.10:g.33519141A>T	NCBI36
NG_016137.1:g.28317A>T
NG_016137.2:g.28317A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2576A>T (SYNGAP1)	ENSP00000507403.1:p.His859Leu
ENST00000418600.7:c.2834A>T (SYNGAP1)	ENSP00000403636.3:p.His945Leu
ENST00000449372.7:c.2792A>T (SYNGAP1)	ENSP00000416519.4:p.His931Leu
ENST00000629380.3:c.2834A>T (SYNGAP1)	ENSP00000486463.1:p.His945Leu
ENST00000644458.1:c.2834A>T (SYNGAP1)	ENSP00000495541.1:p.His945Leu
ENST00000645250.1:c.2657A>T (SYNGAP1)	ENSP00000494861.1:p.His886Leu
ENST00000646630.1:c.2834A>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.His945Leu
ENST00000293748.9:c.2789A>T (SYNGAP1)	ENSP00000293748.6:p.His930Leu
ENST00000418600.6:c.2834A>T (SYNGAP1)	ENSP00000403636.3:p.His945Leu
ENST00000428982.4:c.2657A>T (SYNGAP1)	ENSP00000412475.2:p.His886Leu
ENST00000449372.6:c.2792A>T (SYNGAP1)	ENSP00000416519.3:p.His931Leu
ENST00000628646.2:c.2834A>T (SYNGAP1)	ENSP00000486431.1:p.His945Leu
ENST00000629380.2:c.2834A>T (SYNGAP1)	ENSP00000486463.1:p.His945Leu
NM_006772.2:c.2834A>T (SYNGAP1)	NP_006763.2:p.His945Leu
NM_001130066.1:c.2792A>T (SYNGAP1)	NP_001123538.1:p.His931Leu
NM_001130066.2:c.2792A>T (SYNGAP1)	NP_001123538.1:p.His931Leu
NM_006772.3:c.2834A>T (SYNGAP1) MANE Select	NP_006763.2:p.His945Leu
NR_174954.1:n.329+3220T>A (SYNGAP1-AS1)