Canonical Allele Identifier: CA450103575

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 2824833
• ClinVar RCV Id: RCV003616427
• MyVariant Identifiers: chr6:g.33409393C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33441616C>T , CM000668.2:g.33441616C>T	GRCh38
NC_000006.11:g.33409393C>T , CM000668.1:g.33409393C>T	GRCh37
NC_000006.10:g.33517371C>T	NCBI36
NG_016137.1:g.26547C>T
NG_016137.2:g.26547C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.1893C>T (SYNGAP1)	ENSP00000507403.1:p.Leu631=
ENST00000418600.7:c.2151C>T (SYNGAP1)	ENSP00000403636.3:p.Leu717=
ENST00000449372.7:c.2151C>T (SYNGAP1)	ENSP00000416519.4:p.Leu717=
ENST00000629380.3:c.2151C>T (SYNGAP1)	ENSP00000486463.1:p.Leu717=
ENST00000638142.2:c.*548C>T (SYNGAP1)	ENSP00000490803.1:n.*548C>T
ENST00000644458.1:c.2151C>T (SYNGAP1)	ENSP00000495541.1:p.Leu717=
ENST00000645250.1:c.1974C>T (SYNGAP1)	ENSP00000494861.1:p.Leu658=
ENST00000646630.1:c.2151C>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu717=
ENST00000293748.9:c.2106C>T (SYNGAP1)	ENSP00000293748.6:p.Leu702=
ENST00000418600.6:c.2151C>T (SYNGAP1)	ENSP00000403636.3:p.Leu717=
ENST00000428982.4:c.1974C>T (SYNGAP1)	ENSP00000412475.2:p.Leu658=
ENST00000449372.6:c.2151C>T (SYNGAP1)	ENSP00000416519.3:p.Leu717=
ENST00000628646.2:c.2151C>T (SYNGAP1)	ENSP00000486431.1:p.Leu717=
ENST00000629380.2:c.2151C>T (SYNGAP1)	ENSP00000486463.1:p.Leu717=
NM_006772.2:c.2151C>T (SYNGAP1)	NP_006763.2:p.Leu717=
NM_001130066.1:c.2151C>T (SYNGAP1)	NP_001123538.1:p.Leu717=
NM_001130066.2:c.2151C>T (SYNGAP1)	NP_001123538.1:p.Leu717=
NM_006772.3:c.2151C>T (SYNGAP1) MANE Select	NP_006763.2:p.Leu717=
NR_174954.1:n.330-4135G>A (SYNGAP1-AS1)