Canonical Allele Identifier: CA3758524

Gene: SYNGAP1

Linked Data

• ClinVar Variation Id: 996892
• ClinVar RCV Id: RCV001291709
• dbSNP Id: rs142649710
• ExAC: 6:33402933 C / T
• gnomAD v2: 6-33402933-C-T
• gnomAD v3: 6-33435156-C-T
• gnomAD v4: 6-33435156-C-T
• COSMIC: COSM1294322 ; COSM1294323
• MyVariant Identifiers: chr6:g.33402933C>T (hg19) ; chr6:g.33435156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33435156C>T , CM000668.2:g.33435156C>T	GRCh38
NC_000006.11:g.33402933C>T , CM000668.1:g.33402933C>T	GRCh37
NC_000006.10:g.33510911C>T	NCBI36
NG_016137.1:g.20087C>T
NG_016137.2:g.20087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.256C>T	ENSP00000507403.1:p.Arg86Trp
ENST00000418600.7:c.514C>T	ENSP00000403636.3:p.Arg172Trp
ENST00000449372.7:c.514C>T	ENSP00000416519.4:p.Arg172Trp
ENST00000629380.3:c.514C>T	ENSP00000486463.1:p.Arg172Trp
ENST00000638142.2:c.514C>T	ENSP00000490803.1:p.Arg172Trp
ENST00000644458.1:c.514C>T	ENSP00000495541.1:p.Arg172Trp
ENST00000645250.1:c.337C>T	ENSP00000494861.1:p.Arg113Trp
ENST00000646630.1:c.514C>T MANE Select	ENSP00000496007.1:p.Arg172Trp
ENST00000293748.9:c.469C>T	ENSP00000293748.6:p.Arg157Trp
ENST00000418600.6:c.514C>T	ENSP00000403636.3:p.Arg172Trp
ENST00000428982.4:c.337C>T	ENSP00000412475.2:p.Arg113Trp
ENST00000449372.6:c.514C>T	ENSP00000416519.3:p.Arg172Trp
ENST00000479510.2:n.709C>T
ENST00000628646.2:c.514C>T	ENSP00000486431.1:p.Arg172Trp
ENST00000629380.2:c.514C>T	ENSP00000486463.1:p.Arg172Trp
NM_006772.2:c.514C>T	NP_006763.2:p.Arg172Trp
NM_001130066.1:c.514C>T	NP_001123538.1:p.Arg172Trp
NM_001130066.2:c.514C>T	NP_001123538.1:p.Arg172Trp
NM_006772.3:c.514C>T MANE Select	NP_006763.2:p.Arg172Trp