Canonical Allele Identifier: CA566700763

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• dbSNP Id: rs1339755925
• gnomAD v2: 6-33414316-C-A
• gnomAD v4: 6-33446539-C-A
• MyVariant Identifiers: chr6:g.33414316C>A (hg19) ; chr6:g.33446539C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446539C>A , CM000668.2:g.33446539C>A	GRCh38
NC_000006.11:g.33414316C>A , CM000668.1:g.33414316C>A	GRCh37
NC_000006.10:g.33522294C>A	NCBI36
NG_016137.1:g.31470C>A
NG_016137.2:g.31470C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3325-36C>A (SYNGAP1)	ENSP00000507403.1:n.3325-36C>A
ENST00000418600.7:c.3583-36C>A (SYNGAP1)	ENSP00000403636.3:n.3583-36C>A
ENST00000449372.7:c.3541-42C>A (SYNGAP1)	ENSP00000416519.4:n.3541-42C>A
ENST00000629380.3:c.3583-36C>A (SYNGAP1)	ENSP00000486463.1:n.3583-36C>A
ENST00000644458.1:c.3583-36C>A (SYNGAP1)	ENSP00000495541.1:n.3583-36C>A
ENST00000645250.1:c.3406-36C>A (SYNGAP1)	ENSP00000494861.1:n.3406-36C>A
ENST00000646630.1:c.3583-36C>A (SYNGAP1) MANE Select	ENSP00000496007.1:n.3583-36C>A
ENST00000293748.9:c.3538-36C>A (SYNGAP1)	ENSP00000293748.6:n.3538-36C>A
ENST00000418600.6:c.3583-36C>A (SYNGAP1)	ENSP00000403636.3:n.3583-36C>A
ENST00000428982.4:c.3406-36C>A (SYNGAP1)	ENSP00000412475.2:n.3406-36C>A
ENST00000449372.6:c.3541-42C>A (SYNGAP1)	ENSP00000416519.3:n.3541-42C>A
ENST00000628646.2:c.3583-36C>A (SYNGAP1)	ENSP00000486431.1:n.3583-36C>A
ENST00000629380.2:c.3583-36C>A (SYNGAP1)	ENSP00000486463.1:n.3583-36C>A
NM_006772.2:c.3583-36C>A (SYNGAP1)	NP_006763.2:n.3583-36C>A
NM_001130066.1:c.3541-42C>A (SYNGAP1)	NP_001123538.1:n.3541-42C>A
NM_001130066.2:c.3541-42C>A (SYNGAP1)	NP_001123538.1:n.3541-42C>A
NM_006772.3:c.3583-36C>A (SYNGAP1) MANE Select	NP_006763.2:n.3583-36C>A
NR_174954.1:n.329+67G>T (SYNGAP1-AS1)