Canonical Allele Identifier: CA118188

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 6393
• ClinVar RCV Id: RCV000006765 ; RCV000255371 ; RCV002399311
• dbSNP Id: rs121918316
• MyVariant Identifiers: chr6:g.33408564C>T (hg19) ; chr6:g.33440787C>T (hg38)
• PubMed: PMID:19196676

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33440787C>T , CM000668.2:g.33440787C>T	GRCh38
NC_000006.11:g.33408564C>T , CM000668.1:g.33408564C>T	GRCh37
NC_000006.10:g.33516542C>T	NCBI36
NG_016137.1:g.25718C>T
NG_016137.2:g.25718C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.1477C>T (SYNGAP1)	ENSP00000507403.1:p.Arg493Ter
ENST00000418600.7:c.1735C>T (SYNGAP1)	ENSP00000403636.3:p.Arg579Ter
ENST00000449372.7:c.1735C>T (SYNGAP1)	ENSP00000416519.4:p.Arg579Ter
ENST00000629380.3:c.1735C>T (SYNGAP1)	ENSP00000486463.1:p.Arg579Ter
ENST00000638142.2:c.*132C>T (SYNGAP1)	ENSP00000490803.1:n.*132C>T
ENST00000644458.1:c.1735C>T (SYNGAP1)	ENSP00000495541.1:p.Arg579Ter
ENST00000645250.1:c.1558C>T (SYNGAP1)	ENSP00000494861.1:p.Arg520Ter
ENST00000646630.1:c.1735C>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.Arg579Ter
ENST00000293748.9:c.1690C>T (SYNGAP1)	ENSP00000293748.6:p.Arg564Ter
ENST00000418600.6:c.1735C>T (SYNGAP1)	ENSP00000403636.3:p.Arg579Ter
ENST00000428982.4:c.1558C>T (SYNGAP1)	ENSP00000412475.2:p.Arg520Ter
ENST00000449372.6:c.1735C>T (SYNGAP1)	ENSP00000416519.3:p.Arg579Ter
ENST00000628646.2:c.1735C>T (SYNGAP1)	ENSP00000486431.1:p.Arg579Ter
ENST00000629380.2:c.1735C>T (SYNGAP1)	ENSP00000486463.1:p.Arg579Ter
NM_006772.2:c.1735C>T (SYNGAP1)	NP_006763.2:p.Arg579Ter
NM_001130066.1:c.1735C>T (SYNGAP1)	NP_001123538.1:p.Arg579Ter
NM_001130066.2:c.1735C>T (SYNGAP1)	NP_001123538.1:p.Arg579Ter
NM_006772.3:c.1735C>T (SYNGAP1) MANE Select	NP_006763.2:p.Arg579Ter
NR_174954.1:n.330-3306G>A (SYNGAP1-AS1)