Canonical Allele Identifier: CA450108284

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• MyVariant Identifiers: chr6:g.33408698C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33440921C>A , CM000668.2:g.33440921C>A	GRCh38
NC_000006.11:g.33408698C>A , CM000668.1:g.33408698C>A	GRCh37
NC_000006.10:g.33516676C>A	NCBI36
NG_016137.1:g.25852C>A
NG_016137.2:g.25852C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.1611C>A (SYNGAP1)	ENSP00000507403.1:p.Leu537=
ENST00000418600.7:c.1869C>A (SYNGAP1)	ENSP00000403636.3:p.Leu623=
ENST00000449372.7:c.1869C>A (SYNGAP1)	ENSP00000416519.4:p.Leu623=
ENST00000629380.3:c.1869C>A (SYNGAP1)	ENSP00000486463.1:p.Leu623=
ENST00000638142.2:c.*266C>A (SYNGAP1)	ENSP00000490803.1:n.*266C>A
ENST00000644458.1:c.1869C>A (SYNGAP1)	ENSP00000495541.1:p.Leu623=
ENST00000645250.1:c.1692C>A (SYNGAP1)	ENSP00000494861.1:p.Leu564=
ENST00000646630.1:c.1869C>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu623=
ENST00000293748.9:c.1824C>A (SYNGAP1)	ENSP00000293748.6:p.Leu608=
ENST00000418600.6:c.1869C>A (SYNGAP1)	ENSP00000403636.3:p.Leu623=
ENST00000428982.4:c.1692C>A (SYNGAP1)	ENSP00000412475.2:p.Leu564=
ENST00000449372.6:c.1869C>A (SYNGAP1)	ENSP00000416519.3:p.Leu623=
ENST00000628646.2:c.1869C>A (SYNGAP1)	ENSP00000486431.1:p.Leu623=
ENST00000629380.2:c.1869C>A (SYNGAP1)	ENSP00000486463.1:p.Leu623=
NM_006772.2:c.1869C>A (SYNGAP1)	NP_006763.2:p.Leu623=
NM_001130066.1:c.1869C>A (SYNGAP1)	NP_001123538.1:p.Leu623=
NM_001130066.2:c.1869C>A (SYNGAP1)	NP_001123538.1:p.Leu623=
NM_006772.3:c.1869C>A (SYNGAP1) MANE Select	NP_006763.2:p.Leu623=
NR_174954.1:n.330-3440G>T (SYNGAP1-AS1)