Canonical Allele Identifier: CA3758923

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 1118665
• ClinVar RCV Id: RCV001447836 ; RCV002432245 ; RCV004550184
• dbSNP Id: rs745742397
• ExAC: 6:33410924 C / T
• gnomAD v2: 6-33410924-C-T
• gnomAD v3: 6-33443147-C-T
• gnomAD v4: 6-33443147-C-T
• MyVariant Identifiers: chr6:g.33410924C>T (hg19) ; chr6:g.33443147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443147C>T , CM000668.2:g.33443147C>T	GRCh38
NC_000006.11:g.33410924C>T , CM000668.1:g.33410924C>T	GRCh37
NC_000006.10:g.33518902C>T	NCBI36
NG_016137.1:g.28078C>T
NG_016137.2:g.28078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2337C>T (SYNGAP1)	ENSP00000507403.1:p.Ala779=
ENST00000418600.7:c.2595C>T (SYNGAP1)	ENSP00000403636.3:p.Ala865=
ENST00000449372.7:c.2553C>T (SYNGAP1)	ENSP00000416519.4:p.Ala851=
ENST00000629380.3:c.2595C>T (SYNGAP1)	ENSP00000486463.1:p.Ala865=
ENST00000644458.1:c.2595C>T (SYNGAP1)	ENSP00000495541.1:p.Ala865=
ENST00000645250.1:c.2418C>T (SYNGAP1)	ENSP00000494861.1:p.Ala806=
ENST00000646630.1:c.2595C>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ala865=
ENST00000293748.9:c.2550C>T (SYNGAP1)	ENSP00000293748.6:p.Ala850=
ENST00000418600.6:c.2595C>T (SYNGAP1)	ENSP00000403636.3:p.Ala865=
ENST00000428982.4:c.2418C>T (SYNGAP1)	ENSP00000412475.2:p.Ala806=
ENST00000449372.6:c.2553C>T (SYNGAP1)	ENSP00000416519.3:p.Ala851=
ENST00000628646.2:c.2595C>T (SYNGAP1)	ENSP00000486431.1:p.Ala865=
ENST00000629380.2:c.2595C>T (SYNGAP1)	ENSP00000486463.1:p.Ala865=
NM_006772.2:c.2595C>T (SYNGAP1)	NP_006763.2:p.Ala865=
NM_001130066.1:c.2553C>T (SYNGAP1)	NP_001123538.1:p.Ala851=
NM_001130066.2:c.2553C>T (SYNGAP1)	NP_001123538.1:p.Ala851=
NM_006772.3:c.2595C>T (SYNGAP1) MANE Select	NP_006763.2:p.Ala865=
NR_174954.1:n.329+3459G>A (SYNGAP1-AS1)