Canonical Allele Identifier: CA3758810

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 2283225
• ClinVar RCV Id: RCV002844594 ; RCV003777822
• dbSNP Id: rs577278005
• ExAC: 6:33409442 C / T
• gnomAD v2: 6-33409442-C-T
• gnomAD v3: 6-33441665-C-T
• gnomAD v4: 6-33441665-C-T
• MyVariant Identifiers: chr6:g.33409442C>T (hg19) ; chr6:g.33441665C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33441665C>T , CM000668.2:g.33441665C>T	GRCh38
NC_000006.11:g.33409442C>T , CM000668.1:g.33409442C>T	GRCh37
NC_000006.10:g.33517420C>T	NCBI36
NG_016137.1:g.26596C>T
NG_016137.2:g.26596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.1942C>T (SYNGAP1)	ENSP00000507403.1:p.Pro648Ser
ENST00000418600.7:c.2200C>T (SYNGAP1)	ENSP00000403636.3:p.Pro734Ser
ENST00000449372.7:c.2200C>T (SYNGAP1)	ENSP00000416519.4:p.Pro734Ser
ENST00000629380.3:c.2200C>T (SYNGAP1)	ENSP00000486463.1:p.Pro734Ser
ENST00000638142.2:c.*597C>T (SYNGAP1)	ENSP00000490803.1:n.*597C>T
ENST00000644458.1:c.2200C>T (SYNGAP1)	ENSP00000495541.1:p.Pro734Ser
ENST00000645250.1:c.2023C>T (SYNGAP1)	ENSP00000494861.1:p.Pro675Ser
ENST00000646630.1:c.2200C>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.Pro734Ser
ENST00000293748.9:c.2155C>T (SYNGAP1)	ENSP00000293748.6:p.Pro719Ser
ENST00000418600.6:c.2200C>T (SYNGAP1)	ENSP00000403636.3:p.Pro734Ser
ENST00000428982.4:c.2023C>T (SYNGAP1)	ENSP00000412475.2:p.Pro675Ser
ENST00000449372.6:c.2200C>T (SYNGAP1)	ENSP00000416519.3:p.Pro734Ser
ENST00000628646.2:c.2200C>T (SYNGAP1)	ENSP00000486431.1:p.Pro734Ser
ENST00000629380.2:c.2200C>T (SYNGAP1)	ENSP00000486463.1:p.Pro734Ser
NM_006772.2:c.2200C>T (SYNGAP1)	NP_006763.2:p.Pro734Ser
NM_001130066.1:c.2200C>T (SYNGAP1)	NP_001123538.1:p.Pro734Ser
NM_001130066.2:c.2200C>T (SYNGAP1)	NP_001123538.1:p.Pro734Ser
NM_006772.3:c.2200C>T (SYNGAP1) MANE Select	NP_006763.2:p.Pro734Ser
NR_174954.1:n.330-4184G>A (SYNGAP1-AS1)