Canonical Allele Identifier: CA566430795

Gene: SYNGAP1

Linked Data

• dbSNP Id: rs1345323939
• gnomAD v2: 6-33400636-T-C
• gnomAD v3: 6-33432859-T-C
• gnomAD v4: 6-33432859-T-C
• MyVariant Identifiers: chr6:g.33400636T>C (hg19) ; chr6:g.33432859T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432859T>C , CM000668.2:g.33432859T>C	GRCh38
NC_000006.11:g.33400636T>C , CM000668.1:g.33400636T>C	GRCh37
NC_000006.10:g.33508614T>C	NCBI36
NG_016137.1:g.17790T>C
NG_016137.2:g.17790T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.251+53T>C	ENSP00000507403.1:n.251+53T>C
ENST00000418600.7:c.509+53T>C	ENSP00000403636.3:n.509+53T>C
ENST00000449372.7:c.509+53T>C	ENSP00000416519.4:n.509+53T>C
ENST00000629380.3:c.509+53T>C	ENSP00000486463.1:n.509+53T>C
ENST00000638142.2:c.509+53T>C	ENSP00000490803.1:n.509+53T>C
ENST00000644458.1:c.509+53T>C	ENSP00000495541.1:n.509+53T>C
ENST00000645250.1:c.332+53T>C	ENSP00000494861.1:n.332+53T>C
ENST00000646630.1:c.509+53T>C MANE Select	ENSP00000496007.1:n.509+53T>C
ENST00000293748.9:c.464+53T>C	ENSP00000293748.6:n.464+53T>C
ENST00000418600.6:c.509+53T>C	ENSP00000403636.3:n.509+53T>C
ENST00000428982.4:c.332+53T>C	ENSP00000412475.2:n.332+53T>C
ENST00000449372.6:c.509+53T>C	ENSP00000416519.3:n.509+53T>C
ENST00000479510.2:n.704+53T>C
ENST00000628646.2:c.509+53T>C	ENSP00000486431.1:n.509+53T>C
ENST00000629380.2:c.509+53T>C	ENSP00000486463.1:n.509+53T>C
NM_006772.2:c.509+53T>C	NP_006763.2:n.509+53T>C
NM_001130066.1:c.509+53T>C	NP_001123538.1:n.509+53T>C
NM_001130066.2:c.509+53T>C	NP_001123538.1:n.509+53T>C
NM_006772.3:c.509+53T>C MANE Select	NP_006763.2:n.509+53T>C