Canonical Allele Identifier: CA118186
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6392
ClinVar RCV Id: RCV000006764
dbSNP Id: rs121918315

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33432709A>T , CM000668.2:g.33432709A>T GRCh38
NC_000006.11:g.33400486A>T , CM000668.1:g.33400486A>T GRCh37
NC_000006.10:g.33508464A>T NCBI36
NG_016137.1:g.17640A>T
NG_016137.2:g.17640A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.154A>T ENSP00000507403.1:p.Lys52Ter
ENST00000418600.7:c.412A>T ENSP00000403636.3:p.Lys138Ter
ENST00000449372.7:c.412A>T ENSP00000416519.4:p.Lys138Ter
ENST00000629380.3:c.412A>T ENSP00000486463.1:p.Lys138Ter
ENST00000638142.2:c.412A>T ENSP00000490803.1:p.Lys138Ter
ENST00000644458.1:c.412A>T ENSP00000495541.1:p.Lys138Ter
ENST00000645250.1:c.235A>T ENSP00000494861.1:p.Lys79Ter
ENST00000646630.1:c.412A>T MANE Select ENSP00000496007.1:p.Lys138Ter
ENST00000293748.9:c.367A>T ENSP00000293748.6:p.Lys123Ter
ENST00000418600.6:c.412A>T ENSP00000403636.3:p.Lys138Ter
ENST00000428982.4:c.235A>T ENSP00000412475.2:p.Lys79Ter
ENST00000449372.6:c.412A>T ENSP00000416519.3:p.Lys138Ter
ENST00000479510.2:n.607A>T
ENST00000628646.2:c.412A>T ENSP00000486431.1:p.Lys138Ter
ENST00000629380.2:c.412A>T ENSP00000486463.1:p.Lys138Ter
NM_006772.2:c.412A>T NP_006763.2:p.Lys138Ter
NM_001130066.1:c.412A>T NP_001123538.1:p.Lys138Ter
NM_001130066.2:c.412A>T NP_001123538.1:p.Lys138Ter
NM_006772.3:c.412A>T MANE Select NP_006763.2:p.Lys138Ter