Canonical Allele Identifier: CA137075377

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 1118350
• ClinVar RCV Id: RCV001447415 ; RCV003326574
• dbSNP Id: rs993798547
• gnomAD v2: 6-33414549-G-A
• gnomAD v3: 6-33446772-G-A
• gnomAD v4: 6-33446772-G-A
• MyVariant Identifiers: chr6:g.33414549G>A (hg19) ; chr6:g.33446772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446772G>A , CM000668.2:g.33446772G>A	GRCh38
NC_000006.11:g.33414549G>A , CM000668.1:g.33414549G>A	GRCh37
NC_000006.10:g.33522527G>A	NCBI36
NG_016137.1:g.31703G>A
NG_016137.2:g.31703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3522G>A (SYNGAP1)	ENSP00000507403.1:p.Lys1174=
ENST00000418600.7:c.3780G>A (SYNGAP1)	ENSP00000403636.3:p.Lys1260=
ENST00000449372.7:c.3732G>A (SYNGAP1)	ENSP00000416519.4:p.Lys1244=
ENST00000629380.3:c.3780G>A (SYNGAP1)	ENSP00000486463.1:p.Lys1260=
ENST00000636436.1:n.62G>A (SYNGAP1)
ENST00000644458.1:c.3780G>A (SYNGAP1)	ENSP00000495541.1:p.Lys1260=
ENST00000645250.1:c.3603G>A (SYNGAP1)	ENSP00000494861.1:p.Lys1201=
ENST00000646630.1:c.3780G>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Lys1260=
ENST00000293748.9:c.3735G>A (SYNGAP1)	ENSP00000293748.6:p.Lys1245=
ENST00000418600.6:c.3780G>A (SYNGAP1)	ENSP00000403636.3:p.Lys1260=
ENST00000428982.4:c.3603G>A (SYNGAP1)	ENSP00000412475.2:p.Lys1201=
ENST00000449372.6:c.3732G>A (SYNGAP1)	ENSP00000416519.3:p.Lys1244=
ENST00000470232.1:n.62G>A (SYNGAP1)
ENST00000628646.2:c.3780G>A (SYNGAP1)	ENSP00000486431.1:p.Lys1260=
ENST00000629380.2:c.3780G>A (SYNGAP1)	ENSP00000486463.1:p.Lys1260=
NM_006772.2:c.3780G>A (SYNGAP1)	NP_006763.2:p.Lys1260=
NM_001130066.1:c.3732G>A (SYNGAP1)	NP_001123538.1:p.Lys1244=
NM_001130066.2:c.3732G>A (SYNGAP1)	NP_001123538.1:p.Lys1244=
NM_006772.3:c.3780G>A (SYNGAP1) MANE Select	NP_006763.2:p.Lys1260=
NR_174954.1:n.163C>T (SYNGAP1-AS1)