Canonical Allele Identifier: CA363630049

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• MyVariant Identifiers: chr6:g.33411298C>A (hg19) ; chr6:g.33443521C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443521C>A , CM000668.2:g.33443521C>A	GRCh38
NC_000006.11:g.33411298C>A , CM000668.1:g.33411298C>A	GRCh37
NC_000006.10:g.33519276C>A	NCBI36
NG_016137.1:g.28452C>A
NG_016137.2:g.28452C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2711C>A (SYNGAP1)	ENSP00000507403.1:p.Ser904Tyr
ENST00000418600.7:c.2969C>A (SYNGAP1)	ENSP00000403636.3:p.Ser990Tyr
ENST00000449372.7:c.2927C>A (SYNGAP1)	ENSP00000416519.4:p.Ser976Tyr
ENST00000629380.3:c.2969C>A (SYNGAP1)	ENSP00000486463.1:p.Ser990Tyr
ENST00000644458.1:c.2969C>A (SYNGAP1)	ENSP00000495541.1:p.Ser990Tyr
ENST00000645250.1:c.2792C>A (SYNGAP1)	ENSP00000494861.1:p.Ser931Tyr
ENST00000646630.1:c.2969C>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ser990Tyr
ENST00000293748.9:c.2924C>A (SYNGAP1)	ENSP00000293748.6:p.Ser975Tyr
ENST00000418600.6:c.2969C>A (SYNGAP1)	ENSP00000403636.3:p.Ser990Tyr
ENST00000428982.4:c.2792C>A (SYNGAP1)	ENSP00000412475.2:p.Ser931Tyr
ENST00000449372.6:c.2927C>A (SYNGAP1)	ENSP00000416519.3:p.Ser976Tyr
ENST00000628646.2:c.2969C>A (SYNGAP1)	ENSP00000486431.1:p.Ser990Tyr
ENST00000629380.2:c.2969C>A (SYNGAP1)	ENSP00000486463.1:p.Ser990Tyr
NM_006772.2:c.2969C>A (SYNGAP1)	NP_006763.2:p.Ser990Tyr
NM_001130066.1:c.2927C>A (SYNGAP1)	NP_001123538.1:p.Ser976Tyr
NM_001130066.2:c.2927C>A (SYNGAP1)	NP_001123538.1:p.Ser976Tyr
NM_006772.3:c.2969C>A (SYNGAP1) MANE Select	NP_006763.2:p.Ser990Tyr
NR_174954.1:n.329+3085G>T (SYNGAP1-AS1)