Canonical Allele Identifier: CA1139659354

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 986249
• ClinVar RCV Id: RCV001267556
• dbSNP Id: rs1761210688

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446657_33446661dup , CM000668.2:g.33446657_33446661dup	GRCh38
NC_000006.11:g.33414434_33414438dup , CM000668.1:g.33414434_33414438dup	GRCh37
NC_000006.10:g.33522412_33522416dup	NCBI36
NG_016137.1:g.31588_31592dup
NG_016137.2:g.31588_31592dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3407_3411dup (SYNGAP1)	ENSP00000507403.1:p.Leu1138GlyfsTer13
ENST00000418600.7:c.3665_3669dup (SYNGAP1)	ENSP00000403636.3:p.Leu1224GlyfsTer13
ENST00000449372.7:c.3617_3621dup (SYNGAP1)	ENSP00000416519.4:p.Leu1208GlyfsTer13
ENST00000629380.3:c.3665_3669dup (SYNGAP1)	ENSP00000486463.1:p.Leu1224GlyfsTer13
ENST00000644458.1:c.3665_3669dup (SYNGAP1)	ENSP00000495541.1:p.Leu1224GlyfsTer13
ENST00000645250.1:c.3488_3492dup (SYNGAP1)	ENSP00000494861.1:p.Leu1165GlyfsTer13
ENST00000646630.1:c.3665_3669dup (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu1224GlyfsTer13
ENST00000293748.9:c.3620_3624dup (SYNGAP1)	ENSP00000293748.6:p.Leu1209GlyfsTer13
ENST00000418600.6:c.3665_3669dup (SYNGAP1)	ENSP00000403636.3:p.Leu1224GlyfsTer13
ENST00000428982.4:c.3488_3492dup (SYNGAP1)	ENSP00000412475.2:p.Leu1165GlyfsTer13
ENST00000449372.6:c.3617_3621dup (SYNGAP1)	ENSP00000416519.3:p.Leu1208GlyfsTer13
ENST00000628646.2:c.3665_3669dup (SYNGAP1)	ENSP00000486431.1:p.Leu1224GlyfsTer13
ENST00000629380.2:c.3665_3669dup (SYNGAP1)	ENSP00000486463.1:p.Leu1224GlyfsTer13
NM_006772.2:c.3665_3669dup (SYNGAP1)	NP_006763.2:p.Leu1224GlyfsTer13
NM_001130066.1:c.3617_3621dup (SYNGAP1)	NP_001123538.1:p.Leu1208GlyfsTer13
NM_001130066.2:c.3617_3621dup (SYNGAP1)	NP_001123538.1:p.Leu1208GlyfsTer13
NM_006772.3:c.3665_3669dup (SYNGAP1) MANE Select	NP_006763.2:p.Leu1224GlyfsTer13
NR_174954.1:n.274_278dup (SYNGAP1-AS1)