Allele Registry

Canonical Allele Identifier: CA144638

Gene: SYNGAP1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.33432724C>T

GRCh37 chr6:g.33400501C>T

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000054513

RCV000599367

RCV001265523

ClinVar Variation:

60716

dbSNP:

397514741

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432724C>T , CM000668.2:g.33432724C>T	GRCh38
NC_000006.11:g.33400501C>T , CM000668.1:g.33400501C>T	GRCh37
NC_000006.10:g.33508479C>T	NCBI36
NG_016137.1:g.17655C>T
NG_016137.2:g.17655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.169C>T	ENSP00000507403.1:p.Arg57Ter
ENST00000418600.7:c.427C>T	ENSP00000403636.3:p.Arg143Ter
ENST00000449372.7:c.427C>T	ENSP00000416519.4:p.Arg143Ter
ENST00000629380.3:c.427C>T	ENSP00000486463.1:p.Arg143Ter
ENST00000638142.2:c.427C>T	ENSP00000490803.1:p.Arg143Ter
ENST00000644458.1:c.427C>T	ENSP00000495541.1:p.Arg143Ter
ENST00000645250.1:c.250C>T	ENSP00000494861.1:p.Arg84Ter
ENST00000646630.1:c.427C>T MANE Select	ENSP00000496007.1:p.Arg143Ter
ENST00000293748.9:c.382C>T	ENSP00000293748.6:p.Arg128Ter
ENST00000418600.6:c.427C>T	ENSP00000403636.3:p.Arg143Ter
ENST00000428982.4:c.250C>T	ENSP00000412475.2:p.Arg84Ter
ENST00000449372.6:c.427C>T	ENSP00000416519.3:p.Arg143Ter
ENST00000479510.2:n.622C>T
ENST00000628646.2:c.427C>T	ENSP00000486431.1:p.Arg143Ter
ENST00000629380.2:c.427C>T	ENSP00000486463.1:p.Arg143Ter
NM_006772.2:c.427C>T	NP_006763.2:p.Arg143Ter
NM_001130066.1:c.427C>T	NP_001123538.1:p.Arg143Ter
NM_001130066.2:c.427C>T	NP_001123538.1:p.Arg143Ter
NM_006772.3:c.427C>T MANE Select	NP_006763.2:p.Arg143Ter

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