Canonical Allele Identifier: CA363680487

Gene: SYNGAP1

Linked Data

• ClinVar Variation Id: 579340
• ClinVar RCV Id: RCV000702594
• dbSNP Id: rs759426721
• MyVariant Identifiers: chr6:g.33400481G>C (hg19) ; chr6:g.33432704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432704G>C , CM000668.2:g.33432704G>C	GRCh38
NC_000006.11:g.33400481G>C , CM000668.1:g.33400481G>C	GRCh37
NC_000006.10:g.33508459G>C	NCBI36
NG_016137.1:g.17635G>C
NG_016137.2:g.17635G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.149G>C	ENSP00000507403.1:p.Arg50Pro
ENST00000418600.7:c.407G>C	ENSP00000403636.3:p.Arg136Pro
ENST00000449372.7:c.407G>C	ENSP00000416519.4:p.Arg136Pro
ENST00000629380.3:c.407G>C	ENSP00000486463.1:p.Arg136Pro
ENST00000638142.2:c.407G>C	ENSP00000490803.1:p.Arg136Pro
ENST00000644458.1:c.407G>C	ENSP00000495541.1:p.Arg136Pro
ENST00000645250.1:c.230G>C	ENSP00000494861.1:p.Arg77Pro
ENST00000646630.1:c.407G>C MANE Select	ENSP00000496007.1:p.Arg136Pro
ENST00000293748.9:c.362G>C	ENSP00000293748.6:p.Arg121Pro
ENST00000418600.6:c.407G>C	ENSP00000403636.3:p.Arg136Pro
ENST00000428982.4:c.230G>C	ENSP00000412475.2:p.Arg77Pro
ENST00000449372.6:c.407G>C	ENSP00000416519.3:p.Arg136Pro
ENST00000479510.2:n.602G>C
ENST00000628646.2:c.407G>C	ENSP00000486431.1:p.Arg136Pro
ENST00000629380.2:c.407G>C	ENSP00000486463.1:p.Arg136Pro
NM_006772.2:c.407G>C	NP_006763.2:p.Arg136Pro
NM_001130066.1:c.407G>C	NP_001123538.1:p.Arg136Pro
NM_001130066.2:c.407G>C	NP_001123538.1:p.Arg136Pro
NM_006772.3:c.407G>C MANE Select	NP_006763.2:p.Arg136Pro