Canonical Allele Identifier: CA363632128

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• gnomAD v4: 6-33443764-G-T
• MyVariant Identifiers: chr6:g.33411541G>T (hg19) ; chr6:g.33443764G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443764G>T , CM000668.2:g.33443764G>T	GRCh38
NC_000006.11:g.33411541G>T , CM000668.1:g.33411541G>T	GRCh37
NC_000006.10:g.33519519G>T	NCBI36
NG_016137.1:g.28695G>T
NG_016137.2:g.28695G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.2954G>T (SYNGAP1)	ENSP00000507403.1:p.Gly985Val
ENST00000418600.7:c.3212G>T (SYNGAP1)	ENSP00000403636.3:p.Gly1071Val
ENST00000449372.7:c.3170G>T (SYNGAP1)	ENSP00000416519.4:p.Gly1057Val
ENST00000629380.3:c.3212G>T (SYNGAP1)	ENSP00000486463.1:p.Gly1071Val
ENST00000644458.1:c.3212G>T (SYNGAP1)	ENSP00000495541.1:p.Gly1071Val
ENST00000645250.1:c.3035G>T (SYNGAP1)	ENSP00000494861.1:p.Gly1012Val
ENST00000646630.1:c.3212G>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.Gly1071Val
ENST00000293748.9:c.3167G>T (SYNGAP1)	ENSP00000293748.6:p.Gly1056Val
ENST00000418600.6:c.3212G>T (SYNGAP1)	ENSP00000403636.3:p.Gly1071Val
ENST00000428982.4:c.3035G>T (SYNGAP1)	ENSP00000412475.2:p.Gly1012Val
ENST00000449372.6:c.3170G>T (SYNGAP1)	ENSP00000416519.3:p.Gly1057Val
ENST00000628646.2:c.3212G>T (SYNGAP1)	ENSP00000486431.1:p.Gly1071Val
ENST00000629380.2:c.3212G>T (SYNGAP1)	ENSP00000486463.1:p.Gly1071Val
NM_006772.2:c.3212G>T (SYNGAP1)	NP_006763.2:p.Gly1071Val
NM_001130066.1:c.3170G>T (SYNGAP1)	NP_001123538.1:p.Gly1057Val
NM_001130066.2:c.3170G>T (SYNGAP1)	NP_001123538.1:p.Gly1057Val
NM_006772.3:c.3212G>T (SYNGAP1) MANE Select	NP_006763.2:p.Gly1071Val
NR_174954.1:n.329+2842C>A (SYNGAP1-AS1)