Canonical Allele Identifier: CA206576
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212358
ClinVar RCV Id: RCV000193233
dbSNP Id: rs797046031
MyVariant Identifiers: chr6:g.33403391G>T (hg19) chr6:g.33435614G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33435614G>T , CM000668.2:g.33435614G>T GRCh38
NC_000006.11:g.33403391G>T , CM000668.1:g.33403391G>T GRCh37
NC_000006.10:g.33511369G>T NCBI36
NG_016137.1:g.20545G>T
NG_016137.2:g.20545G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.504+1G>T ENSP00000507403.1:n.504+1G>T
ENST00000418600.7:c.762+1G>T ENSP00000403636.3:n.762+1G>T
ENST00000449372.7:c.762+1G>T ENSP00000416519.4:n.762+1G>T
ENST00000629380.3:c.762+1G>T ENSP00000486463.1:n.762+1G>T
ENST00000638142.2:c.762+1G>T ENSP00000490803.1:n.762+1G>T
ENST00000644458.1:c.762+1G>T ENSP00000495541.1:n.762+1G>T
ENST00000645250.1:c.585+1G>T ENSP00000494861.1:n.585+1G>T
ENST00000646630.1:c.762+1G>T MANE Select ENSP00000496007.1:n.762+1G>T
ENST00000293748.9:c.717+1G>T ENSP00000293748.6:n.717+1G>T
ENST00000418600.6:c.762+1G>T ENSP00000403636.3:n.762+1G>T
ENST00000428982.4:c.585+1G>T ENSP00000412475.2:n.585+1G>T
ENST00000449372.6:c.762+1G>T ENSP00000416519.3:n.762+1G>T
ENST00000479510.2:n.957+1G>T
ENST00000628646.2:c.762+1G>T ENSP00000486431.1:n.762+1G>T
ENST00000629380.2:c.762+1G>T ENSP00000486463.1:n.762+1G>T
NM_006772.2:c.762+1G>T NP_006763.2:n.762+1G>T
NM_001130066.1:c.762+1G>T NP_001123538.1:n.762+1G>T
NM_001130066.2:c.762+1G>T NP_001123538.1:n.762+1G>T
NM_006772.3:c.762+1G>T MANE Select NP_006763.2:n.762+1G>T
Search 100 bp 5'
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