Canonical Allele Identifier: CA363680434

Gene: SYNGAP1

Linked Data

• gnomAD v3: 6-33432691-T-C
• gnomAD v4: 6-33432691-T-C
• MyVariant Identifiers: chr6:g.33400468T>C (hg19) ; chr6:g.33432691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432691T>C , CM000668.2:g.33432691T>C	GRCh38
NC_000006.11:g.33400468T>C , CM000668.1:g.33400468T>C	GRCh37
NC_000006.10:g.33508446T>C	NCBI36
NG_016137.1:g.17622T>C
NG_016137.2:g.17622T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.136T>C	ENSP00000507403.1:p.Phe46Leu
ENST00000418600.7:c.394T>C	ENSP00000403636.3:p.Phe132Leu
ENST00000449372.7:c.394T>C	ENSP00000416519.4:p.Phe132Leu
ENST00000629380.3:c.394T>C	ENSP00000486463.1:p.Phe132Leu
ENST00000638142.2:c.394T>C	ENSP00000490803.1:p.Phe132Leu
ENST00000644458.1:c.394T>C	ENSP00000495541.1:p.Phe132Leu
ENST00000645250.1:c.217T>C	ENSP00000494861.1:p.Phe73Leu
ENST00000646630.1:c.394T>C MANE Select	ENSP00000496007.1:p.Phe132Leu
ENST00000293748.9:c.349T>C	ENSP00000293748.6:p.Phe117Leu
ENST00000418600.6:c.394T>C	ENSP00000403636.3:p.Phe132Leu
ENST00000428982.4:c.217T>C	ENSP00000412475.2:p.Phe73Leu
ENST00000449372.6:c.394T>C	ENSP00000416519.3:p.Phe132Leu
ENST00000479510.2:n.589T>C
ENST00000628646.2:c.394T>C	ENSP00000486431.1:p.Phe132Leu
ENST00000629380.2:c.394T>C	ENSP00000486463.1:p.Phe132Leu
NM_006772.2:c.394T>C	NP_006763.2:p.Phe132Leu
NM_001130066.1:c.394T>C	NP_001123538.1:p.Phe132Leu
NM_001130066.2:c.394T>C	NP_001123538.1:p.Phe132Leu
NM_006772.3:c.394T>C MANE Select	NP_006763.2:p.Phe132Leu