Canonical Allele Identifier: CA450104325

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 2898278
• ClinVar RCV Id: RCV003617275
• dbSNP Id: rs1761116324
• gnomAD v4: 6-33443754-T-C
• MyVariant Identifiers: chr6:g.33411531T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443754T>C , CM000668.2:g.33443754T>C	GRCh38
NC_000006.11:g.33411531T>C , CM000668.1:g.33411531T>C	GRCh37
NC_000006.10:g.33519509T>C	NCBI36
NG_016137.1:g.28685T>C
NG_016137.2:g.28685T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.2944T>C (SYNGAP1)	ENSP00000507403.1:p.Leu982=
ENST00000418600.7:c.3202T>C (SYNGAP1)	ENSP00000403636.3:p.Leu1068=
ENST00000449372.7:c.3160T>C (SYNGAP1)	ENSP00000416519.4:p.Leu1054=
ENST00000629380.3:c.3202T>C (SYNGAP1)	ENSP00000486463.1:p.Leu1068=
ENST00000644458.1:c.3202T>C (SYNGAP1)	ENSP00000495541.1:p.Leu1068=
ENST00000645250.1:c.3025T>C (SYNGAP1)	ENSP00000494861.1:p.Leu1009=
ENST00000646630.1:c.3202T>C (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu1068=
ENST00000293748.9:c.3157T>C (SYNGAP1)	ENSP00000293748.6:p.Leu1053=
ENST00000418600.6:c.3202T>C (SYNGAP1)	ENSP00000403636.3:p.Leu1068=
ENST00000428982.4:c.3025T>C (SYNGAP1)	ENSP00000412475.2:p.Leu1009=
ENST00000449372.6:c.3160T>C (SYNGAP1)	ENSP00000416519.3:p.Leu1054=
ENST00000628646.2:c.3202T>C (SYNGAP1)	ENSP00000486431.1:p.Leu1068=
ENST00000629380.2:c.3202T>C (SYNGAP1)	ENSP00000486463.1:p.Leu1068=
NM_006772.2:c.3202T>C (SYNGAP1)	NP_006763.2:p.Leu1068=
NM_001130066.1:c.3160T>C (SYNGAP1)	NP_001123538.1:p.Leu1054=
NM_001130066.2:c.3160T>C (SYNGAP1)	NP_001123538.1:p.Leu1054=
NM_006772.3:c.3202T>C (SYNGAP1) MANE Select	NP_006763.2:p.Leu1068=
NR_174954.1:n.329+2852A>G (SYNGAP1-AS1)