Canonical Allele Identifier: CA449860180

Gene: SYNGAP1

Linked Data

• COSMIC: COSM3625739 ; COSM3625740
• MyVariant Identifiers: chr6:g.33400470C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432693C>T , CM000668.2:g.33432693C>T	GRCh38
NC_000006.11:g.33400470C>T , CM000668.1:g.33400470C>T	GRCh37
NC_000006.10:g.33508448C>T	NCBI36
NG_016137.1:g.17624C>T
NG_016137.2:g.17624C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.138C>T	ENSP00000507403.1:p.Phe46=
ENST00000418600.7:c.396C>T	ENSP00000403636.3:p.Phe132=
ENST00000449372.7:c.396C>T	ENSP00000416519.4:p.Phe132=
ENST00000629380.3:c.396C>T	ENSP00000486463.1:p.Phe132=
ENST00000638142.2:c.396C>T	ENSP00000490803.1:p.Phe132=
ENST00000644458.1:c.396C>T	ENSP00000495541.1:p.Phe132=
ENST00000645250.1:c.219C>T	ENSP00000494861.1:p.Phe73=
ENST00000646630.1:c.396C>T MANE Select	ENSP00000496007.1:p.Phe132=
ENST00000293748.9:c.351C>T	ENSP00000293748.6:p.Phe117=
ENST00000418600.6:c.396C>T	ENSP00000403636.3:p.Phe132=
ENST00000428982.4:c.219C>T	ENSP00000412475.2:p.Phe73=
ENST00000449372.6:c.396C>T	ENSP00000416519.3:p.Phe132=
ENST00000479510.2:n.591C>T
ENST00000628646.2:c.396C>T	ENSP00000486431.1:p.Phe132=
ENST00000629380.2:c.396C>T	ENSP00000486463.1:p.Phe132=
NM_006772.2:c.396C>T	NP_006763.2:p.Phe132=
NM_001130066.1:c.396C>T	NP_001123538.1:p.Phe132=
NM_001130066.2:c.396C>T	NP_001123538.1:p.Phe132=
NM_006772.3:c.396C>T MANE Select	NP_006763.2:p.Phe132=