Canonical Allele Identifier: CA363680770
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426956
ClinVar RCV Id: RCV000489135
dbSNP Id: rs1085307871
MyVariant Identifiers: chr6:g.33400546C>T (hg19) chr6:g.33432769C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33432769C>T , CM000668.2:g.33432769C>T GRCh38
NC_000006.11:g.33400546C>T , CM000668.1:g.33400546C>T GRCh37
NC_000006.10:g.33508524C>T NCBI36
NG_016137.1:g.17700C>T
NG_016137.2:g.17700C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.214C>T ENSP00000507403.1:p.Gln72Ter
ENST00000418600.7:c.472C>T ENSP00000403636.3:p.Gln158Ter
ENST00000449372.7:c.472C>T ENSP00000416519.4:p.Gln158Ter
ENST00000629380.3:c.472C>T ENSP00000486463.1:p.Gln158Ter
ENST00000638142.2:c.472C>T ENSP00000490803.1:p.Gln158Ter
ENST00000644458.1:c.472C>T ENSP00000495541.1:p.Gln158Ter
ENST00000645250.1:c.295C>T ENSP00000494861.1:p.Gln99Ter
ENST00000646630.1:c.472C>T MANE Select ENSP00000496007.1:p.Gln158Ter
ENST00000293748.9:c.427C>T ENSP00000293748.6:p.Gln143Ter
ENST00000418600.6:c.472C>T ENSP00000403636.3:p.Gln158Ter
ENST00000428982.4:c.295C>T ENSP00000412475.2:p.Gln99Ter
ENST00000449372.6:c.472C>T ENSP00000416519.3:p.Gln158Ter
ENST00000479510.2:n.667C>T
ENST00000628646.2:c.472C>T ENSP00000486431.1:p.Gln158Ter
ENST00000629380.2:c.472C>T ENSP00000486463.1:p.Gln158Ter
NM_006772.2:c.472C>T NP_006763.2:p.Gln158Ter
NM_001130066.1:c.472C>T NP_001123538.1:p.Gln158Ter
NM_001130066.2:c.472C>T NP_001123538.1:p.Gln158Ter
NM_006772.3:c.472C>T MANE Select NP_006763.2:p.Gln158Ter
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