Canonical Allele Identifier: CA363680426

Gene: SYNGAP1

Linked Data

• MyVariant Identifiers: chr6:g.33400466G>T (hg19) ; chr6:g.33432689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432689G>T , CM000668.2:g.33432689G>T	GRCh38
NC_000006.11:g.33400466G>T , CM000668.1:g.33400466G>T	GRCh37
NC_000006.10:g.33508444G>T	NCBI36
NG_016137.1:g.17620G>T
NG_016137.2:g.17620G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.134G>T	ENSP00000507403.1:p.Gly45Val
ENST00000418600.7:c.392G>T	ENSP00000403636.3:p.Gly131Val
ENST00000449372.7:c.392G>T	ENSP00000416519.4:p.Gly131Val
ENST00000629380.3:c.392G>T	ENSP00000486463.1:p.Gly131Val
ENST00000638142.2:c.392G>T	ENSP00000490803.1:p.Gly131Val
ENST00000644458.1:c.392G>T	ENSP00000495541.1:p.Gly131Val
ENST00000645250.1:c.215G>T	ENSP00000494861.1:p.Gly72Val
ENST00000646630.1:c.392G>T MANE Select	ENSP00000496007.1:p.Gly131Val
ENST00000293748.9:c.347G>T	ENSP00000293748.6:p.Gly116Val
ENST00000418600.6:c.392G>T	ENSP00000403636.3:p.Gly131Val
ENST00000428982.4:c.215G>T	ENSP00000412475.2:p.Gly72Val
ENST00000449372.6:c.392G>T	ENSP00000416519.3:p.Gly131Val
ENST00000479510.2:n.587G>T
ENST00000628646.2:c.392G>T	ENSP00000486431.1:p.Gly131Val
ENST00000629380.2:c.392G>T	ENSP00000486463.1:p.Gly131Val
NM_006772.2:c.392G>T	NP_006763.2:p.Gly131Val
NM_001130066.1:c.392G>T	NP_001123538.1:p.Gly131Val
NM_001130066.2:c.392G>T	NP_001123538.1:p.Gly131Val
NM_006772.3:c.392G>T MANE Select	NP_006763.2:p.Gly131Val