Canonical Allele Identifier: CA363636782

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• MyVariant Identifiers: chr6:g.33414353T>A (hg19) ; chr6:g.33446576T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446576T>A , CM000668.2:g.33446576T>A	GRCh38
NC_000006.11:g.33414353T>A , CM000668.1:g.33414353T>A	GRCh37
NC_000006.10:g.33522331T>A	NCBI36
NG_016137.1:g.31507T>A
NG_016137.2:g.31507T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3326T>A (SYNGAP1)	ENSP00000507403.1:p.Val1109Glu
ENST00000418600.7:c.3584T>A (SYNGAP1)	ENSP00000403636.3:p.Val1195Glu
ENST00000449372.7:c.3541-5T>A (SYNGAP1)	ENSP00000416519.4:n.3541-5T>A
ENST00000629380.3:c.3584T>A (SYNGAP1)	ENSP00000486463.1:p.Val1195Glu
ENST00000644458.1:c.3584T>A (SYNGAP1)	ENSP00000495541.1:p.Val1195Glu
ENST00000645250.1:c.3407T>A (SYNGAP1)	ENSP00000494861.1:p.Val1136Glu
ENST00000646630.1:c.3584T>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Val1195Glu
ENST00000293748.9:c.3539T>A (SYNGAP1)	ENSP00000293748.6:p.Val1180Glu
ENST00000418600.6:c.3584T>A (SYNGAP1)	ENSP00000403636.3:p.Val1195Glu
ENST00000428982.4:c.3407T>A (SYNGAP1)	ENSP00000412475.2:p.Val1136Glu
ENST00000449372.6:c.3541-5T>A (SYNGAP1)	ENSP00000416519.3:n.3541-5T>A
ENST00000628646.2:c.3584T>A (SYNGAP1)	ENSP00000486431.1:p.Val1195Glu
ENST00000629380.2:c.3584T>A (SYNGAP1)	ENSP00000486463.1:p.Val1195Glu
NM_006772.2:c.3584T>A (SYNGAP1)	NP_006763.2:p.Val1195Glu
NM_001130066.1:c.3541-5T>A (SYNGAP1)	NP_001123538.1:n.3541-5T>A
NM_001130066.2:c.3541-5T>A (SYNGAP1)	NP_001123538.1:n.3541-5T>A
NM_006772.3:c.3584T>A (SYNGAP1) MANE Select	NP_006763.2:p.Val1195Glu
NR_174954.1:n.329+30A>T (SYNGAP1-AS1)