Canonical Allele Identifier: CA16611962

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 411591
• ClinVar RCV Id: RCV001518397
• dbSNP Id: rs1060503387
• gnomAD v4: 6-33443130-G-A
• MyVariant Identifiers: chr6:g.33410907G>A (hg19) ; chr6:g.33443130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443130G>A , CM000668.2:g.33443130G>A	GRCh38
NC_000006.11:g.33410907G>A , CM000668.1:g.33410907G>A	GRCh37
NC_000006.10:g.33518885G>A	NCBI36
NG_016137.1:g.28061G>A
NG_016137.2:g.28061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2320G>A (SYNGAP1)	ENSP00000507403.1:p.Val774Ile
ENST00000418600.7:c.2578G>A (SYNGAP1)	ENSP00000403636.3:p.Val860Ile
ENST00000449372.7:c.2536G>A (SYNGAP1)	ENSP00000416519.4:p.Val846Ile
ENST00000629380.3:c.2578G>A (SYNGAP1)	ENSP00000486463.1:p.Val860Ile
ENST00000644458.1:c.2578G>A (SYNGAP1)	ENSP00000495541.1:p.Val860Ile
ENST00000645250.1:c.2401G>A (SYNGAP1)	ENSP00000494861.1:p.Val801Ile
ENST00000646630.1:c.2578G>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Val860Ile
ENST00000293748.9:c.2533G>A (SYNGAP1)	ENSP00000293748.6:p.Val845Ile
ENST00000418600.6:c.2578G>A (SYNGAP1)	ENSP00000403636.3:p.Val860Ile
ENST00000428982.4:c.2401G>A (SYNGAP1)	ENSP00000412475.2:p.Val801Ile
ENST00000449372.6:c.2536G>A (SYNGAP1)	ENSP00000416519.3:p.Val846Ile
ENST00000628646.2:c.2578G>A (SYNGAP1)	ENSP00000486431.1:p.Val860Ile
ENST00000629380.2:c.2578G>A (SYNGAP1)	ENSP00000486463.1:p.Val860Ile
NM_006772.2:c.2578G>A (SYNGAP1)	NP_006763.2:p.Val860Ile
NM_001130066.1:c.2536G>A (SYNGAP1)	NP_001123538.1:p.Val846Ile
NM_001130066.2:c.2536G>A (SYNGAP1)	NP_001123538.1:p.Val846Ile
NM_006772.3:c.2578G>A (SYNGAP1) MANE Select	NP_006763.2:p.Val860Ile
NR_174954.1:n.329+3476C>T (SYNGAP1-AS1)