Canonical Allele Identifier: CA2678275435

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• gnomAD v4: 6-33446908-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446908T>A , CM000668.2:g.33446908T>A	GRCh38
NC_000006.11:g.33414685T>A , CM000668.1:g.33414685T>A	GRCh37
NC_000006.10:g.33522663T>A	NCBI36
NG_016137.1:g.31839T>A
NG_016137.2:g.31839T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3536+122T>A (SYNGAP1)	ENSP00000507403.1:n.3536+122T>A
ENST00000418600.7:c.3794+122T>A (SYNGAP1)	ENSP00000403636.3:n.3794+122T>A
ENST00000449372.7:c.3746+122T>A (SYNGAP1)	ENSP00000416519.4:n.3746+122T>A
ENST00000629380.3:c.3794+122T>A (SYNGAP1)	ENSP00000486463.1:n.3794+122T>A
ENST00000636436.1:n.76+122T>A (SYNGAP1)
ENST00000644458.1:c.3794+122T>A (SYNGAP1)	ENSP00000495541.1:n.3794+122T>A
ENST00000645250.1:c.3617+122T>A (SYNGAP1)	ENSP00000494861.1:n.3617+122T>A
ENST00000646630.1:c.3794+122T>A (SYNGAP1) MANE Select	ENSP00000496007.1:n.3794+122T>A
ENST00000293748.9:c.3749+122T>A (SYNGAP1)	ENSP00000293748.6:n.3749+122T>A
ENST00000418600.6:c.3794+122T>A (SYNGAP1)	ENSP00000403636.3:n.3794+122T>A
ENST00000428982.4:c.3617+122T>A (SYNGAP1)	ENSP00000412475.2:n.3617+122T>A
ENST00000449372.6:c.3746+122T>A (SYNGAP1)	ENSP00000416519.3:n.3746+122T>A
ENST00000470232.1:n.76+122T>A (SYNGAP1)
ENST00000628646.2:c.3794+122T>A (SYNGAP1)	ENSP00000486431.1:n.3794+122T>A
ENST00000629380.2:c.3794+122T>A (SYNGAP1)	ENSP00000486463.1:n.3794+122T>A
NM_006772.2:c.3794+122T>A (SYNGAP1)	NP_006763.2:n.3794+122T>A
NM_001130066.1:c.3746+122T>A (SYNGAP1)	NP_001123538.1:n.3746+122T>A
NM_001130066.2:c.3746+122T>A (SYNGAP1)	NP_001123538.1:n.3746+122T>A
NM_006772.3:c.3794+122T>A (SYNGAP1) MANE Select	NP_006763.2:n.3794+122T>A
NR_174954.1:n.137-110A>T (SYNGAP1-AS1)