Canonical Allele Identifier: CA2499218217

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 1075097
• ClinVar RCV Id: RCV001388600 ; RCV001532539 ; RCV004550100
• dbSNP Id: rs2151168473
• gnomAD v4: 6-33437727-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33437733dup , CM000668.2:g.33437733dup	GRCh38
NC_000006.11:g.33405510dup , CM000668.1:g.33405510dup	GRCh37
NC_000006.10:g.33513488dup	NCBI36
NG_016137.1:g.22664dup
NG_016137.2:g.22664dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.570dup (SYNGAP1)	ENSP00000507403.1:p.Lys191GlnfsTer7
ENST00000418600.7:c.828dup (SYNGAP1)	ENSP00000403636.3:p.Lys277GlnfsTer7
ENST00000449372.7:c.828dup (SYNGAP1)	ENSP00000416519.4:p.Lys277GlnfsTer7
ENST00000629380.3:c.828dup (SYNGAP1)	ENSP00000486463.1:p.Lys277GlnfsTer7
ENST00000638142.2:c.828dup (SYNGAP1)	ENSP00000490803.1:p.Lys277GlnfsTer7
ENST00000644458.1:c.828dup (SYNGAP1)	ENSP00000495541.1:p.Lys277GlnfsTer7
ENST00000645250.1:c.651dup (SYNGAP1)	ENSP00000494861.1:p.Lys218GlnfsTer7
ENST00000646630.1:c.828dup (SYNGAP1) MANE Select	ENSP00000496007.1:p.Lys277GlnfsTer7
ENST00000293748.9:c.783dup (SYNGAP1)	ENSP00000293748.6:p.Lys262GlnfsTer7
ENST00000418600.6:c.828dup (SYNGAP1)	ENSP00000403636.3:p.Lys277GlnfsTer7
ENST00000428982.4:c.651dup (SYNGAP1)	ENSP00000412475.2:p.Lys218GlnfsTer7
ENST00000449372.6:c.828dup (SYNGAP1)	ENSP00000416519.3:p.Lys277GlnfsTer7
ENST00000479510.2:n.1023dup (SYNGAP1)
ENST00000628646.2:c.828dup (SYNGAP1)	ENSP00000486431.1:p.Lys277GlnfsTer7
ENST00000629380.2:c.828dup (SYNGAP1)	ENSP00000486463.1:p.Lys277GlnfsTer7
NM_006772.2:c.828dup (SYNGAP1)	NP_006763.2:p.Lys277GlnfsTer7
NM_001130066.1:c.828dup (SYNGAP1)	NP_001123538.1:p.Lys277GlnfsTer7
NM_001130066.2:c.828dup (SYNGAP1)	NP_001123538.1:p.Lys277GlnfsTer7
NM_006772.3:c.828dup (SYNGAP1) MANE Select	NP_006763.2:p.Lys277GlnfsTer7
NR_174954.1:n.330-247dup (SYNGAP1-AS1)