Canonical Allele Identifier: CA363631172

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 1901716
• ClinVar RCV Id: RCV002576760
• MyVariant Identifiers: chr6:g.33411429C>G (hg19) ; chr6:g.33443652C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443652C>G , CM000668.2:g.33443652C>G	GRCh38
NC_000006.11:g.33411429C>G , CM000668.1:g.33411429C>G	GRCh37
NC_000006.10:g.33519407C>G	NCBI36
NG_016137.1:g.28583C>G
NG_016137.2:g.28583C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.2842C>G (SYNGAP1)	ENSP00000507403.1:p.Pro948Ala
ENST00000418600.7:c.3100C>G (SYNGAP1)	ENSP00000403636.3:p.Pro1034Ala
ENST00000449372.7:c.3058C>G (SYNGAP1)	ENSP00000416519.4:p.Pro1020Ala
ENST00000629380.3:c.3100C>G (SYNGAP1)	ENSP00000486463.1:p.Pro1034Ala
ENST00000644458.1:c.3100C>G (SYNGAP1)	ENSP00000495541.1:p.Pro1034Ala
ENST00000645250.1:c.2923C>G (SYNGAP1)	ENSP00000494861.1:p.Pro975Ala
ENST00000646630.1:c.3100C>G (SYNGAP1) MANE Select	ENSP00000496007.1:p.Pro1034Ala
ENST00000293748.9:c.3055C>G (SYNGAP1)	ENSP00000293748.6:p.Pro1019Ala
ENST00000418600.6:c.3100C>G (SYNGAP1)	ENSP00000403636.3:p.Pro1034Ala
ENST00000428982.4:c.2923C>G (SYNGAP1)	ENSP00000412475.2:p.Pro975Ala
ENST00000449372.6:c.3058C>G (SYNGAP1)	ENSP00000416519.3:p.Pro1020Ala
ENST00000628646.2:c.3100C>G (SYNGAP1)	ENSP00000486431.1:p.Pro1034Ala
ENST00000629380.2:c.3100C>G (SYNGAP1)	ENSP00000486463.1:p.Pro1034Ala
NM_006772.2:c.3100C>G (SYNGAP1)	NP_006763.2:p.Pro1034Ala
NM_001130066.1:c.3058C>G (SYNGAP1)	NP_001123538.1:p.Pro1020Ala
NM_001130066.2:c.3058C>G (SYNGAP1)	NP_001123538.1:p.Pro1020Ala
NM_006772.3:c.3100C>G (SYNGAP1) MANE Select	NP_006763.2:p.Pro1034Ala
NR_174954.1:n.329+2954G>C (SYNGAP1-AS1)