Canonical Allele Identifier: CA363637032

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 834052
• ClinVar RCV Id: RCV001034609
• dbSNP Id: rs1761209223
• MyVariant Identifiers: chr6:g.33414401T>A (hg19) ; chr6:g.33446624T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446624T>A , CM000668.2:g.33446624T>A	GRCh38
NC_000006.11:g.33414401T>A , CM000668.1:g.33414401T>A	GRCh37
NC_000006.10:g.33522379T>A	NCBI36
NG_016137.1:g.31555T>A
NG_016137.2:g.31555T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3374T>A (SYNGAP1)	ENSP00000507403.1:p.Met1125Lys
ENST00000418600.7:c.3632T>A (SYNGAP1)	ENSP00000403636.3:p.Met1211Lys
ENST00000449372.7:c.3584T>A (SYNGAP1)	ENSP00000416519.4:p.Met1195Lys
ENST00000629380.3:c.3632T>A (SYNGAP1)	ENSP00000486463.1:p.Met1211Lys
ENST00000644458.1:c.3632T>A (SYNGAP1)	ENSP00000495541.1:p.Met1211Lys
ENST00000645250.1:c.3455T>A (SYNGAP1)	ENSP00000494861.1:p.Met1152Lys
ENST00000646630.1:c.3632T>A (SYNGAP1) MANE Select	ENSP00000496007.1:p.Met1211Lys
ENST00000293748.9:c.3587T>A (SYNGAP1)	ENSP00000293748.6:p.Met1196Lys
ENST00000418600.6:c.3632T>A (SYNGAP1)	ENSP00000403636.3:p.Met1211Lys
ENST00000428982.4:c.3455T>A (SYNGAP1)	ENSP00000412475.2:p.Met1152Lys
ENST00000449372.6:c.3584T>A (SYNGAP1)	ENSP00000416519.3:p.Met1195Lys
ENST00000628646.2:c.3632T>A (SYNGAP1)	ENSP00000486431.1:p.Met1211Lys
ENST00000629380.2:c.3632T>A (SYNGAP1)	ENSP00000486463.1:p.Met1211Lys
NM_006772.2:c.3632T>A (SYNGAP1)	NP_006763.2:p.Met1211Lys
NM_001130066.1:c.3584T>A (SYNGAP1)	NP_001123538.1:p.Met1195Lys
NM_001130066.2:c.3584T>A (SYNGAP1)	NP_001123538.1:p.Met1195Lys
NM_006772.3:c.3632T>A (SYNGAP1) MANE Select	NP_006763.2:p.Met1211Lys
NR_174954.1:n.311A>T (SYNGAP1-AS1)