Canonical Allele Identifier: CA363628739

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• gnomAD v4: 6-33443379-G-C
• MyVariant Identifiers: chr6:g.33411156G>C (hg19) ; chr6:g.33443379G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443379G>C , CM000668.2:g.33443379G>C	GRCh38
NC_000006.11:g.33411156G>C , CM000668.1:g.33411156G>C	GRCh37
NC_000006.10:g.33519134G>C	NCBI36
NG_016137.1:g.28310G>C
NG_016137.2:g.28310G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2569G>C (SYNGAP1)	ENSP00000507403.1:p.Gly857Arg
ENST00000418600.7:c.2827G>C (SYNGAP1)	ENSP00000403636.3:p.Gly943Arg
ENST00000449372.7:c.2785G>C (SYNGAP1)	ENSP00000416519.4:p.Gly929Arg
ENST00000629380.3:c.2827G>C (SYNGAP1)	ENSP00000486463.1:p.Gly943Arg
ENST00000644458.1:c.2827G>C (SYNGAP1)	ENSP00000495541.1:p.Gly943Arg
ENST00000645250.1:c.2650G>C (SYNGAP1)	ENSP00000494861.1:p.Gly884Arg
ENST00000646630.1:c.2827G>C (SYNGAP1) MANE Select	ENSP00000496007.1:p.Gly943Arg
ENST00000293748.9:c.2782G>C (SYNGAP1)	ENSP00000293748.6:p.Gly928Arg
ENST00000418600.6:c.2827G>C (SYNGAP1)	ENSP00000403636.3:p.Gly943Arg
ENST00000428982.4:c.2650G>C (SYNGAP1)	ENSP00000412475.2:p.Gly884Arg
ENST00000449372.6:c.2785G>C (SYNGAP1)	ENSP00000416519.3:p.Gly929Arg
ENST00000628646.2:c.2827G>C (SYNGAP1)	ENSP00000486431.1:p.Gly943Arg
ENST00000629380.2:c.2827G>C (SYNGAP1)	ENSP00000486463.1:p.Gly943Arg
NM_006772.2:c.2827G>C (SYNGAP1)	NP_006763.2:p.Gly943Arg
NM_001130066.1:c.2785G>C (SYNGAP1)	NP_001123538.1:p.Gly929Arg
NM_001130066.2:c.2785G>C (SYNGAP1)	NP_001123538.1:p.Gly929Arg
NM_006772.3:c.2827G>C (SYNGAP1) MANE Select	NP_006763.2:p.Gly943Arg
NR_174954.1:n.329+3227C>G (SYNGAP1-AS1)