Canonical Allele Identifier: CA3758492

Gene: SYNGAP1

Linked Data

• dbSNP Id: rs776442140
• ExAC: 6:33400471 C / A
• gnomAD v2: 6-33400471-C-A
• MyVariant Identifiers: chr6:g.33400471C>A (hg19) ; chr6:g.33432694C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432694C>A , CM000668.2:g.33432694C>A	GRCh38
NC_000006.11:g.33400471C>A , CM000668.1:g.33400471C>A	GRCh37
NC_000006.10:g.33508449C>A	NCBI36
NG_016137.1:g.17625C>A
NG_016137.2:g.17625C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.139C>A	ENSP00000507403.1:p.Leu47Met
ENST00000418600.7:c.397C>A	ENSP00000403636.3:p.Leu133Met
ENST00000449372.7:c.397C>A	ENSP00000416519.4:p.Leu133Met
ENST00000629380.3:c.397C>A	ENSP00000486463.1:p.Leu133Met
ENST00000638142.2:c.397C>A	ENSP00000490803.1:p.Leu133Met
ENST00000644458.1:c.397C>A	ENSP00000495541.1:p.Leu133Met
ENST00000645250.1:c.220C>A	ENSP00000494861.1:p.Leu74Met
ENST00000646630.1:c.397C>A MANE Select	ENSP00000496007.1:p.Leu133Met
ENST00000293748.9:c.352C>A	ENSP00000293748.6:p.Leu118Met
ENST00000418600.6:c.397C>A	ENSP00000403636.3:p.Leu133Met
ENST00000428982.4:c.220C>A	ENSP00000412475.2:p.Leu74Met
ENST00000449372.6:c.397C>A	ENSP00000416519.3:p.Leu133Met
ENST00000479510.2:n.592C>A
ENST00000628646.2:c.397C>A	ENSP00000486431.1:p.Leu133Met
ENST00000629380.2:c.397C>A	ENSP00000486463.1:p.Leu133Met
NM_006772.2:c.397C>A	NP_006763.2:p.Leu133Met
NM_001130066.1:c.397C>A	NP_001123538.1:p.Leu133Met
NM_001130066.2:c.397C>A	NP_001123538.1:p.Leu133Met
NM_006772.3:c.397C>A MANE Select	NP_006763.2:p.Leu133Met