Canonical Allele Identifier: CA363638072

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• MyVariant Identifiers: chr6:g.33414556A>T (hg19) ; chr6:g.33446779A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446779A>T , CM000668.2:g.33446779A>T	GRCh38
NC_000006.11:g.33414556A>T , CM000668.1:g.33414556A>T	GRCh37
NC_000006.10:g.33522534A>T	NCBI36
NG_016137.1:g.31710A>T
NG_016137.2:g.31710A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3529A>T (SYNGAP1)	ENSP00000507403.1:p.Ile1177Phe
ENST00000418600.7:c.3787A>T (SYNGAP1)	ENSP00000403636.3:p.Ile1263Phe
ENST00000449372.7:c.3739A>T (SYNGAP1)	ENSP00000416519.4:p.Ile1247Phe
ENST00000629380.3:c.3787A>T (SYNGAP1)	ENSP00000486463.1:p.Ile1263Phe
ENST00000636436.1:n.69A>T (SYNGAP1)
ENST00000644458.1:c.3787A>T (SYNGAP1)	ENSP00000495541.1:p.Ile1263Phe
ENST00000645250.1:c.3610A>T (SYNGAP1)	ENSP00000494861.1:p.Ile1204Phe
ENST00000646630.1:c.3787A>T (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ile1263Phe
ENST00000293748.9:c.3742A>T (SYNGAP1)	ENSP00000293748.6:p.Ile1248Phe
ENST00000418600.6:c.3787A>T (SYNGAP1)	ENSP00000403636.3:p.Ile1263Phe
ENST00000428982.4:c.3610A>T (SYNGAP1)	ENSP00000412475.2:p.Ile1204Phe
ENST00000449372.6:c.3739A>T (SYNGAP1)	ENSP00000416519.3:p.Ile1247Phe
ENST00000470232.1:n.69A>T (SYNGAP1)
ENST00000628646.2:c.3787A>T (SYNGAP1)	ENSP00000486431.1:p.Ile1263Phe
ENST00000629380.2:c.3787A>T (SYNGAP1)	ENSP00000486463.1:p.Ile1263Phe
NM_006772.2:c.3787A>T (SYNGAP1)	NP_006763.2:p.Ile1263Phe
NM_001130066.1:c.3739A>T (SYNGAP1)	NP_001123538.1:p.Ile1247Phe
NM_001130066.2:c.3739A>T (SYNGAP1)	NP_001123538.1:p.Ile1247Phe
NM_006772.3:c.3787A>T (SYNGAP1) MANE Select	NP_006763.2:p.Ile1263Phe
NR_174954.1:n.156T>A (SYNGAP1-AS1)