Canonical Allele Identifier: CA449839751

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• dbSNP Id: rs1207365456
• gnomAD v2: 6-33414540-C-T
• gnomAD v3: 6-33446763-C-T
• gnomAD v4: 6-33446763-C-T
• MyVariant Identifiers: chr6:g.33414540C>T (hg19) ; chr6:g.33446763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446763C>T , CM000668.2:g.33446763C>T	GRCh38
NC_000006.11:g.33414540C>T , CM000668.1:g.33414540C>T	GRCh37
NC_000006.10:g.33522518C>T	NCBI36
NG_016137.1:g.31694C>T
NG_016137.2:g.31694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3513C>T (SYNGAP1)	ENSP00000507403.1:p.Ser1171=
ENST00000418600.7:c.3771C>T (SYNGAP1)	ENSP00000403636.3:p.Ser1257=
ENST00000449372.7:c.3723C>T (SYNGAP1)	ENSP00000416519.4:p.Ser1241=
ENST00000629380.3:c.3771C>T (SYNGAP1)	ENSP00000486463.1:p.Ser1257=
ENST00000636436.1:n.53C>T (SYNGAP1)
ENST00000644458.1:c.3771C>T (SYNGAP1)	ENSP00000495541.1:p.Ser1257=
ENST00000645250.1:c.3594C>T (SYNGAP1)	ENSP00000494861.1:p.Ser1198=
ENST00000646630.1:c.3771C>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ser1257=
ENST00000293748.9:c.3726C>T (SYNGAP1)	ENSP00000293748.6:p.Ser1242=
ENST00000418600.6:c.3771C>T (SYNGAP1)	ENSP00000403636.3:p.Ser1257=
ENST00000428982.4:c.3594C>T (SYNGAP1)	ENSP00000412475.2:p.Ser1198=
ENST00000449372.6:c.3723C>T (SYNGAP1)	ENSP00000416519.3:p.Ser1241=
ENST00000470232.1:n.53C>T (SYNGAP1)
ENST00000628646.2:c.3771C>T (SYNGAP1)	ENSP00000486431.1:p.Ser1257=
ENST00000629380.2:c.3771C>T (SYNGAP1)	ENSP00000486463.1:p.Ser1257=
NM_006772.2:c.3771C>T (SYNGAP1)	NP_006763.2:p.Ser1257=
NM_001130066.1:c.3723C>T (SYNGAP1)	NP_001123538.1:p.Ser1241=
NM_001130066.2:c.3723C>T (SYNGAP1)	NP_001123538.1:p.Ser1241=
NM_006772.3:c.3771C>T (SYNGAP1) MANE Select	NP_006763.2:p.Ser1257=
NR_174954.1:n.172G>A (SYNGAP1-AS1)