Canonical Allele Identifier: CA449860187

Gene: SYNGAP1

Linked Data

• MyVariant Identifiers: chr6:g.33400473G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432696G>C , CM000668.2:g.33432696G>C	GRCh38
NC_000006.11:g.33400473G>C , CM000668.1:g.33400473G>C	GRCh37
NC_000006.10:g.33508451G>C	NCBI36
NG_016137.1:g.17627G>C
NG_016137.2:g.17627G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.141G>C	ENSP00000507403.1:p.Leu47=
ENST00000418600.7:c.399G>C	ENSP00000403636.3:p.Leu133=
ENST00000449372.7:c.399G>C	ENSP00000416519.4:p.Leu133=
ENST00000629380.3:c.399G>C	ENSP00000486463.1:p.Leu133=
ENST00000638142.2:c.399G>C	ENSP00000490803.1:p.Leu133=
ENST00000644458.1:c.399G>C	ENSP00000495541.1:p.Leu133=
ENST00000645250.1:c.222G>C	ENSP00000494861.1:p.Leu74=
ENST00000646630.1:c.399G>C MANE Select	ENSP00000496007.1:p.Leu133=
ENST00000293748.9:c.354G>C	ENSP00000293748.6:p.Leu118=
ENST00000418600.6:c.399G>C	ENSP00000403636.3:p.Leu133=
ENST00000428982.4:c.222G>C	ENSP00000412475.2:p.Leu74=
ENST00000449372.6:c.399G>C	ENSP00000416519.3:p.Leu133=
ENST00000479510.2:n.594G>C
ENST00000628646.2:c.399G>C	ENSP00000486431.1:p.Leu133=
ENST00000629380.2:c.399G>C	ENSP00000486463.1:p.Leu133=
NM_006772.2:c.399G>C	NP_006763.2:p.Leu133=
NM_001130066.1:c.399G>C	NP_001123538.1:p.Leu133=
NM_001130066.2:c.399G>C	NP_001123538.1:p.Leu133=
NM_006772.3:c.399G>C MANE Select	NP_006763.2:p.Leu133=