Canonical Allele Identifier: CA2678271523

Gene: SYNGAP1

Linked Data

• gnomAD v4: 6-33435006-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33435006A>G , CM000668.2:g.33435006A>G	GRCh38
NC_000006.11:g.33402783A>G , CM000668.1:g.33402783A>G	GRCh37
NC_000006.10:g.33510761A>G	NCBI36
NG_016137.1:g.19937A>G
NG_016137.2:g.19937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.252-146A>G	ENSP00000507403.1:n.252-146A>G
ENST00000418600.7:c.510-146A>G	ENSP00000403636.3:n.510-146A>G
ENST00000449372.7:c.510-146A>G	ENSP00000416519.4:n.510-146A>G
ENST00000629380.3:c.510-146A>G	ENSP00000486463.1:n.510-146A>G
ENST00000638142.2:c.510-146A>G	ENSP00000490803.1:n.510-146A>G
ENST00000644458.1:c.510-146A>G	ENSP00000495541.1:n.510-146A>G
ENST00000645250.1:c.333-146A>G	ENSP00000494861.1:n.333-146A>G
ENST00000646630.1:c.510-146A>G MANE Select	ENSP00000496007.1:n.510-146A>G
ENST00000293748.9:c.465-146A>G	ENSP00000293748.6:n.465-146A>G
ENST00000418600.6:c.510-146A>G	ENSP00000403636.3:n.510-146A>G
ENST00000428982.4:c.333-146A>G	ENSP00000412475.2:n.333-146A>G
ENST00000449372.6:c.510-146A>G	ENSP00000416519.3:n.510-146A>G
ENST00000479510.2:n.705-146A>G
ENST00000628646.2:c.510-146A>G	ENSP00000486431.1:n.510-146A>G
ENST00000629380.2:c.510-146A>G	ENSP00000486463.1:n.510-146A>G
NM_006772.2:c.510-146A>G	NP_006763.2:n.510-146A>G
NM_001130066.1:c.510-146A>G	NP_001123538.1:n.510-146A>G
NM_001130066.2:c.510-146A>G	NP_001123538.1:n.510-146A>G
NM_006772.3:c.510-146A>G MANE Select	NP_006763.2:n.510-146A>G