Canonical Allele Identifier: CA658822624

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 546999
• ClinVar RCV Id: RCV000659050
• dbSNP Id: rs1554122276

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443531dup , CM000668.2:g.33443531dup	GRCh38
NC_000006.11:g.33411308dup , CM000668.1:g.33411308dup	GRCh37
NC_000006.10:g.33519286dup	NCBI36
NG_016137.1:g.28462dup
NG_016137.2:g.28462dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2721dup (SYNGAP1)	ENSP00000507403.1:p.Lys908GlnfsTer10
ENST00000418600.7:c.2979dup (SYNGAP1)	ENSP00000403636.3:p.Lys994GlnfsTer10
ENST00000449372.7:c.2937dup (SYNGAP1)	ENSP00000416519.4:p.Lys980GlnfsTer10
ENST00000629380.3:c.2979dup (SYNGAP1)	ENSP00000486463.1:p.Lys994GlnfsTer10
ENST00000644458.1:c.2979dup (SYNGAP1)	ENSP00000495541.1:p.Lys994GlnfsTer10
ENST00000645250.1:c.2802dup (SYNGAP1)	ENSP00000494861.1:p.Lys935GlnfsTer10
ENST00000646630.1:c.2979dup (SYNGAP1) MANE Select	ENSP00000496007.1:p.Lys994GlnfsTer10
ENST00000293748.9:c.2934dup (SYNGAP1)	ENSP00000293748.6:p.Lys979GlnfsTer10
ENST00000418600.6:c.2979dup (SYNGAP1)	ENSP00000403636.3:p.Lys994GlnfsTer10
ENST00000428982.4:c.2802dup (SYNGAP1)	ENSP00000412475.2:p.Lys935GlnfsTer10
ENST00000449372.6:c.2937dup (SYNGAP1)	ENSP00000416519.3:p.Lys980GlnfsTer10
ENST00000628646.2:c.2979dup (SYNGAP1)	ENSP00000486431.1:p.Lys994GlnfsTer10
ENST00000629380.2:c.2979dup (SYNGAP1)	ENSP00000486463.1:p.Lys994GlnfsTer10
NM_006772.2:c.2979dup (SYNGAP1)	NP_006763.2:p.Lys994GlnfsTer10
NM_001130066.1:c.2937dup (SYNGAP1)	NP_001123538.1:p.Lys980GlnfsTer10
NM_001130066.2:c.2937dup (SYNGAP1)	NP_001123538.1:p.Lys980GlnfsTer10
NM_006772.3:c.2979dup (SYNGAP1) MANE Select	NP_006763.2:p.Lys994GlnfsTer10
NR_174954.1:n.329+3078dup (SYNGAP1-AS1)