Canonical Allele Identifier: CA1139659338

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 988444
• ClinVar RCV Id: RCV001269801
• dbSNP Id: rs1761093830

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443077_33443080dup , CM000668.2:g.33443077_33443080dup	GRCh38
NC_000006.11:g.33410854_33410857dup , CM000668.1:g.33410854_33410857dup	GRCh37
NC_000006.10:g.33518832_33518835dup	NCBI36
NG_016137.1:g.28008_28011dup
NG_016137.2:g.28008_28011dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2267_2270dup (SYNGAP1)	ENSP00000507403.1:p.Met757IlefsTer8
ENST00000418600.7:c.2525_2528dup (SYNGAP1)	ENSP00000403636.3:p.Met843IlefsTer8
ENST00000449372.7:c.2483_2486dup (SYNGAP1)	ENSP00000416519.4:p.Met829IlefsTer8
ENST00000629380.3:c.2525_2528dup (SYNGAP1)	ENSP00000486463.1:p.Met843IlefsTer8
ENST00000644458.1:c.2525_2528dup (SYNGAP1)	ENSP00000495541.1:p.Met843IlefsTer8
ENST00000645250.1:c.2348_2351dup (SYNGAP1)	ENSP00000494861.1:p.Met784IlefsTer8
ENST00000646630.1:c.2525_2528dup (SYNGAP1) MANE Select	ENSP00000496007.1:p.Met843IlefsTer8
ENST00000293748.9:c.2480_2483dup (SYNGAP1)	ENSP00000293748.6:p.Met828IlefsTer8
ENST00000418600.6:c.2525_2528dup (SYNGAP1)	ENSP00000403636.3:p.Met843IlefsTer8
ENST00000428982.4:c.2348_2351dup (SYNGAP1)	ENSP00000412475.2:p.Met784IlefsTer8
ENST00000449372.6:c.2483_2486dup (SYNGAP1)	ENSP00000416519.3:p.Met829IlefsTer8
ENST00000628646.2:c.2525_2528dup (SYNGAP1)	ENSP00000486431.1:p.Met843IlefsTer8
ENST00000629380.2:c.2525_2528dup (SYNGAP1)	ENSP00000486463.1:p.Met843IlefsTer8
NM_006772.2:c.2525_2528dup (SYNGAP1)	NP_006763.2:p.Met843IlefsTer8
NM_001130066.1:c.2483_2486dup (SYNGAP1)	NP_001123538.1:p.Met829IlefsTer8
NM_001130066.2:c.2483_2486dup (SYNGAP1)	NP_001123538.1:p.Met829IlefsTer8
NM_006772.3:c.2525_2528dup (SYNGAP1) MANE Select	NP_006763.2:p.Met843IlefsTer8
NR_174954.1:n.329+3527_329+3530dup (SYNGAP1-AS1)