Canonical Allele Identifier: CA16043415

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 373940
• ClinVar RCV Id: RCV000415313
• dbSNP Id: rs1057518786
• MyVariant Identifiers: chr6:g.33409151G>A (hg19) ; chr6:g.33441374G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33441374G>A , CM000668.2:g.33441374G>A	GRCh38
NC_000006.11:g.33409151G>A , CM000668.1:g.33409151G>A	GRCh37
NC_000006.10:g.33517129G>A	NCBI36
NG_016137.1:g.26305G>A
NG_016137.2:g.26305G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.1857G>A (SYNGAP1)	ENSP00000507403.1:p.Lys619=
ENST00000418600.7:c.2115G>A (SYNGAP1)	ENSP00000403636.3:p.Lys705=
ENST00000449372.7:c.2115G>A (SYNGAP1)	ENSP00000416519.4:p.Lys705=
ENST00000629380.3:c.2115G>A (SYNGAP1)	ENSP00000486463.1:p.Lys705=
ENST00000636193.1:n.67G>A (SYNGAP1)
ENST00000636640.1:n.46G>A (SYNGAP1)
ENST00000638142.2:c.*512G>A (SYNGAP1)	ENSP00000490803.1:n.*512G>A
ENST00000644458.1:c.2115G>A (SYNGAP1)	ENSP00000495541.1:p.Lys705=
ENST00000645250.1:c.1938G>A (SYNGAP1)	ENSP00000494861.1:p.Lys646=
ENST00000646630.1:c.2115G>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Lys705=
ENST00000293748.9:c.2070G>A (SYNGAP1)	ENSP00000293748.6:p.Lys690=
ENST00000418600.6:c.2115G>A (SYNGAP1)	ENSP00000403636.3:p.Lys705=
ENST00000428982.4:c.1938G>A (SYNGAP1)	ENSP00000412475.2:p.Lys646=
ENST00000449372.6:c.2115G>A (SYNGAP1)	ENSP00000416519.3:p.Lys705=
ENST00000628646.2:c.2115G>A (SYNGAP1)	ENSP00000486431.1:p.Lys705=
ENST00000629380.2:c.2115G>A (SYNGAP1)	ENSP00000486463.1:p.Lys705=
NM_006772.2:c.2115G>A (SYNGAP1)	NP_006763.2:p.Lys705=
NM_001130066.1:c.2115G>A (SYNGAP1)	NP_001123538.1:p.Lys705=
NM_001130066.2:c.2115G>A (SYNGAP1)	NP_001123538.1:p.Lys705=
NM_006772.3:c.2115G>A (SYNGAP1) MANE Select	NP_006763.2:p.Lys705=
NR_174954.1:n.330-3893C>T (SYNGAP1-AS1)