Canonical Allele Identifier: CA449839630

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• dbSNP Id: rs1476852507
• gnomAD v2: 6-33414393-G-T
• gnomAD v4: 6-33446616-G-T
• MyVariant Identifiers: chr6:g.33414393G>T (hg19) ; chr6:g.33446616G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446616G>T , CM000668.2:g.33446616G>T	GRCh38
NC_000006.11:g.33414393G>T , CM000668.1:g.33414393G>T	GRCh37
NC_000006.10:g.33522371G>T	NCBI36
NG_016137.1:g.31547G>T
NG_016137.2:g.31547G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3366G>T (SYNGAP1)	ENSP00000507403.1:p.Arg1122=
ENST00000418600.7:c.3624G>T (SYNGAP1)	ENSP00000403636.3:p.Arg1208=
ENST00000449372.7:c.3576G>T (SYNGAP1)	ENSP00000416519.4:p.Arg1192=
ENST00000629380.3:c.3624G>T (SYNGAP1)	ENSP00000486463.1:p.Arg1208=
ENST00000644458.1:c.3624G>T (SYNGAP1)	ENSP00000495541.1:p.Arg1208=
ENST00000645250.1:c.3447G>T (SYNGAP1)	ENSP00000494861.1:p.Arg1149=
ENST00000646630.1:c.3624G>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.Arg1208=
ENST00000293748.9:c.3579G>T (SYNGAP1)	ENSP00000293748.6:p.Arg1193=
ENST00000418600.6:c.3624G>T (SYNGAP1)	ENSP00000403636.3:p.Arg1208=
ENST00000428982.4:c.3447G>T (SYNGAP1)	ENSP00000412475.2:p.Arg1149=
ENST00000449372.6:c.3576G>T (SYNGAP1)	ENSP00000416519.3:p.Arg1192=
ENST00000628646.2:c.3624G>T (SYNGAP1)	ENSP00000486431.1:p.Arg1208=
ENST00000629380.2:c.3624G>T (SYNGAP1)	ENSP00000486463.1:p.Arg1208=
NM_006772.2:c.3624G>T (SYNGAP1)	NP_006763.2:p.Arg1208=
NM_001130066.1:c.3576G>T (SYNGAP1)	NP_001123538.1:p.Arg1192=
NM_001130066.2:c.3576G>T (SYNGAP1)	NP_001123538.1:p.Arg1192=
NM_006772.3:c.3624G>T (SYNGAP1) MANE Select	NP_006763.2:p.Arg1208=
NR_174954.1:n.319C>A (SYNGAP1-AS1)