Canonical Allele Identifier: CA1087666346

Gene: SYNGAP1

Linked Data

• dbSNP Id: rs1777188538
• gnomAD v3: 6-33432611-C-T
• gnomAD v4: 6-33432611-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432611C>T , CM000668.2:g.33432611C>T	GRCh38
NC_000006.11:g.33400388C>T , CM000668.1:g.33400388C>T	GRCh37
NC_000006.10:g.33508366C>T	NCBI36
NG_016137.1:g.17542C>T
NG_016137.2:g.17542C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.130-74C>T	ENSP00000507403.1:n.130-74C>T
ENST00000418600.7:c.388-74C>T	ENSP00000403636.3:n.388-74C>T
ENST00000449372.7:c.388-74C>T	ENSP00000416519.4:n.388-74C>T
ENST00000629380.3:c.388-74C>T	ENSP00000486463.1:n.388-74C>T
ENST00000638142.2:c.388-74C>T	ENSP00000490803.1:n.388-74C>T
ENST00000644458.1:c.388-74C>T	ENSP00000495541.1:n.388-74C>T
ENST00000645250.1:c.211-74C>T	ENSP00000494861.1:n.211-74C>T
ENST00000646630.1:c.388-74C>T MANE Select	ENSP00000496007.1:n.388-74C>T
ENST00000293748.9:c.343-74C>T	ENSP00000293748.6:n.343-74C>T
ENST00000418600.6:c.388-74C>T	ENSP00000403636.3:n.388-74C>T
ENST00000428982.4:c.211-74C>T	ENSP00000412475.2:n.211-74C>T
ENST00000449372.6:c.388-74C>T	ENSP00000416519.3:n.388-74C>T
ENST00000479510.2:n.583-74C>T
ENST00000628646.2:c.388-74C>T	ENSP00000486431.1:n.388-74C>T
ENST00000629380.2:c.388-74C>T	ENSP00000486463.1:n.388-74C>T
NM_006772.2:c.388-74C>T	NP_006763.2:n.388-74C>T
NM_001130066.1:c.388-74C>T	NP_001123538.1:n.388-74C>T
NM_001130066.2:c.388-74C>T	NP_001123538.1:n.388-74C>T
NM_006772.3:c.388-74C>T MANE Select	NP_006763.2:n.388-74C>T