Canonical Allele Identifier: CA450103695

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 3003759
• ClinVar RCV Id: RCV003863334
• dbSNP Id: rs1185755471
• gnomAD v2: 6-33410852-G-A
• gnomAD v3: 6-33443075-G-A
• gnomAD v4: 6-33443075-G-A
• MyVariant Identifiers: chr6:g.33410852G>A (hg19) ; chr6:g.33443075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443075G>A , CM000668.2:g.33443075G>A	GRCh38
NC_000006.11:g.33410852G>A , CM000668.1:g.33410852G>A	GRCh37
NC_000006.10:g.33518830G>A	NCBI36
NG_016137.1:g.28006G>A
NG_016137.2:g.28006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2265G>A (SYNGAP1)	ENSP00000507403.1:p.Val755=
ENST00000418600.7:c.2523G>A (SYNGAP1)	ENSP00000403636.3:p.Val841=
ENST00000449372.7:c.2481G>A (SYNGAP1)	ENSP00000416519.4:p.Val827=
ENST00000629380.3:c.2523G>A (SYNGAP1)	ENSP00000486463.1:p.Val841=
ENST00000644458.1:c.2523G>A (SYNGAP1)	ENSP00000495541.1:p.Val841=
ENST00000645250.1:c.2346G>A (SYNGAP1)	ENSP00000494861.1:p.Val782=
ENST00000646630.1:c.2523G>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Val841=
ENST00000293748.9:c.2478G>A (SYNGAP1)	ENSP00000293748.6:p.Val826=
ENST00000418600.6:c.2523G>A (SYNGAP1)	ENSP00000403636.3:p.Val841=
ENST00000428982.4:c.2346G>A (SYNGAP1)	ENSP00000412475.2:p.Val782=
ENST00000449372.6:c.2481G>A (SYNGAP1)	ENSP00000416519.3:p.Val827=
ENST00000628646.2:c.2523G>A (SYNGAP1)	ENSP00000486431.1:p.Val841=
ENST00000629380.2:c.2523G>A (SYNGAP1)	ENSP00000486463.1:p.Val841=
NM_006772.2:c.2523G>A (SYNGAP1)	NP_006763.2:p.Val841=
NM_001130066.1:c.2481G>A (SYNGAP1)	NP_001123538.1:p.Val827=
NM_001130066.2:c.2481G>A (SYNGAP1)	NP_001123538.1:p.Val827=
NM_006772.3:c.2523G>A (SYNGAP1) MANE Select	NP_006763.2:p.Val841=
NR_174954.1:n.329+3531C>T (SYNGAP1-AS1)