Canonical Allele Identifier: CA449839885

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 1633339
• ClinVar RCV Id: RCV002121778
• dbSNP Id: rs1454267782
• gnomAD v2: 6-33414581-G-GA
• gnomAD v3: 6-33446804-G-GA
• gnomAD v4: 6-33446804-G-GA
• MyVariant Identifiers: chr6:g.33414581_33414582insA (hg19) ; chr6:g.33446804_33446805insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446805dup , CM000668.2:g.33446805dup	GRCh38
NC_000006.11:g.33414582dup , CM000668.1:g.33414582dup	GRCh37
NC_000006.10:g.33522560dup	NCBI36
NG_016137.1:g.31736dup
NG_016137.2:g.31736dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3536+19dup (SYNGAP1)	ENSP00000507403.1:n.3536+19dup
ENST00000418600.7:c.3794+19dup (SYNGAP1)	ENSP00000403636.3:n.3794+19dup
ENST00000449372.7:c.3746+19dup (SYNGAP1)	ENSP00000416519.4:n.3746+19dup
ENST00000629380.3:c.3794+19dup (SYNGAP1)	ENSP00000486463.1:n.3794+19dup
ENST00000636436.1:n.76+19dup (SYNGAP1)
ENST00000644458.1:c.3794+19dup (SYNGAP1)	ENSP00000495541.1:n.3794+19dup
ENST00000645250.1:c.3617+19dup (SYNGAP1)	ENSP00000494861.1:n.3617+19dup
ENST00000646630.1:c.3794+19dup (SYNGAP1) MANE Select	ENSP00000496007.1:n.3794+19dup
ENST00000293748.9:c.3749+19dup (SYNGAP1)	ENSP00000293748.6:n.3749+19dup
ENST00000418600.6:c.3794+19dup (SYNGAP1)	ENSP00000403636.3:n.3794+19dup
ENST00000428982.4:c.3617+19dup (SYNGAP1)	ENSP00000412475.2:n.3617+19dup
ENST00000449372.6:c.3746+19dup (SYNGAP1)	ENSP00000416519.3:n.3746+19dup
ENST00000470232.1:n.76+19dup (SYNGAP1)
ENST00000628646.2:c.3794+19dup (SYNGAP1)	ENSP00000486431.1:n.3794+19dup
ENST00000629380.2:c.3794+19dup (SYNGAP1)	ENSP00000486463.1:n.3794+19dup
NM_006772.2:c.3794+19dup (SYNGAP1)	NP_006763.2:n.3794+19dup
NM_001130066.1:c.3746+19dup (SYNGAP1)	NP_001123538.1:n.3746+19dup
NM_001130066.2:c.3746+19dup (SYNGAP1)	NP_001123538.1:n.3746+19dup
NM_006772.3:c.3794+19dup (SYNGAP1) MANE Select	NP_006763.2:n.3794+19dup
NR_174954.1:n.137-7dup (SYNGAP1-AS1)