Canonical Allele Identifier: CA363680716
Gene: SYNGAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33432757A>G , CM000668.2:g.33432757A>G GRCh38
NC_000006.11:g.33400534A>G , CM000668.1:g.33400534A>G GRCh37
NC_000006.10:g.33508512A>G NCBI36
NG_016137.1:g.17688A>G
NG_016137.2:g.17688A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.202A>G ENSP00000507403.1:p.Ser68Gly
ENST00000418600.7:c.460A>G ENSP00000403636.3:p.Ser154Gly
ENST00000449372.7:c.460A>G ENSP00000416519.4:p.Ser154Gly
ENST00000629380.3:c.460A>G ENSP00000486463.1:p.Ser154Gly
ENST00000638142.2:c.460A>G ENSP00000490803.1:p.Ser154Gly
ENST00000644458.1:c.460A>G ENSP00000495541.1:p.Ser154Gly
ENST00000645250.1:c.283A>G ENSP00000494861.1:p.Ser95Gly
ENST00000646630.1:c.460A>G MANE Select ENSP00000496007.1:p.Ser154Gly
ENST00000293748.9:c.415A>G ENSP00000293748.6:p.Ser139Gly
ENST00000418600.6:c.460A>G ENSP00000403636.3:p.Ser154Gly
ENST00000428982.4:c.283A>G ENSP00000412475.2:p.Ser95Gly
ENST00000449372.6:c.460A>G ENSP00000416519.3:p.Ser154Gly
ENST00000479510.2:n.655A>G
ENST00000628646.2:c.460A>G ENSP00000486431.1:p.Ser154Gly
ENST00000629380.2:c.460A>G ENSP00000486463.1:p.Ser154Gly
NM_006772.2:c.460A>G NP_006763.2:p.Ser154Gly
NM_001130066.1:c.460A>G NP_001123538.1:p.Ser154Gly
NM_001130066.2:c.460A>G NP_001123538.1:p.Ser154Gly
NM_006772.3:c.460A>G MANE Select NP_006763.2:p.Ser154Gly