Canonical Allele Identifier: CA363680832

Gene: SYNGAP1

Linked Data

• MyVariant Identifiers: chr6:g.33400561T>C (hg19) ; chr6:g.33432784T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432784T>C , CM000668.2:g.33432784T>C	GRCh38
NC_000006.11:g.33400561T>C , CM000668.1:g.33400561T>C	GRCh37
NC_000006.10:g.33508539T>C	NCBI36
NG_016137.1:g.17715T>C
NG_016137.2:g.17715T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.229T>C	ENSP00000507403.1:p.Phe77Leu
ENST00000418600.7:c.487T>C	ENSP00000403636.3:p.Phe163Leu
ENST00000449372.7:c.487T>C	ENSP00000416519.4:p.Phe163Leu
ENST00000629380.3:c.487T>C	ENSP00000486463.1:p.Phe163Leu
ENST00000638142.2:c.487T>C	ENSP00000490803.1:p.Phe163Leu
ENST00000644458.1:c.487T>C	ENSP00000495541.1:p.Phe163Leu
ENST00000645250.1:c.310T>C	ENSP00000494861.1:p.Phe104Leu
ENST00000646630.1:c.487T>C MANE Select	ENSP00000496007.1:p.Phe163Leu
ENST00000293748.9:c.442T>C	ENSP00000293748.6:p.Phe148Leu
ENST00000418600.6:c.487T>C	ENSP00000403636.3:p.Phe163Leu
ENST00000428982.4:c.310T>C	ENSP00000412475.2:p.Phe104Leu
ENST00000449372.6:c.487T>C	ENSP00000416519.3:p.Phe163Leu
ENST00000479510.2:n.682T>C
ENST00000628646.2:c.487T>C	ENSP00000486431.1:p.Phe163Leu
ENST00000629380.2:c.487T>C	ENSP00000486463.1:p.Phe163Leu
NM_006772.2:c.487T>C	NP_006763.2:p.Phe163Leu
NM_001130066.1:c.487T>C	NP_001123538.1:p.Phe163Leu
NM_001130066.2:c.487T>C	NP_001123538.1:p.Phe163Leu
NM_006772.3:c.487T>C MANE Select	NP_006763.2:p.Phe163Leu