Canonical Allele Identifier: CA363682016
Gene: SYNGAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33435176G>T , CM000668.2:g.33435176G>T GRCh38
NC_000006.11:g.33402953G>T , CM000668.1:g.33402953G>T GRCh37
NC_000006.10:g.33510931G>T NCBI36
NG_016137.1:g.20107G>T
NG_016137.2:g.20107G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.276G>T ENSP00000507403.1:p.Lys92Asn
ENST00000418600.7:c.534G>T ENSP00000403636.3:p.Lys178Asn
ENST00000449372.7:c.534G>T ENSP00000416519.4:p.Lys178Asn
ENST00000629380.3:c.534G>T ENSP00000486463.1:p.Lys178Asn
ENST00000638142.2:c.534G>T ENSP00000490803.1:p.Lys178Asn
ENST00000644458.1:c.534G>T ENSP00000495541.1:p.Lys178Asn
ENST00000645250.1:c.357G>T ENSP00000494861.1:p.Lys119Asn
ENST00000646630.1:c.534G>T MANE Select ENSP00000496007.1:p.Lys178Asn
ENST00000293748.9:c.489G>T ENSP00000293748.6:p.Lys163Asn
ENST00000418600.6:c.534G>T ENSP00000403636.3:p.Lys178Asn
ENST00000428982.4:c.357G>T ENSP00000412475.2:p.Lys119Asn
ENST00000449372.6:c.534G>T ENSP00000416519.3:p.Lys178Asn
ENST00000479510.2:n.729G>T
ENST00000628646.2:c.534G>T ENSP00000486431.1:p.Lys178Asn
ENST00000629380.2:c.534G>T ENSP00000486463.1:p.Lys178Asn
NM_006772.2:c.534G>T NP_006763.2:p.Lys178Asn
NM_001130066.1:c.534G>T NP_001123538.1:p.Lys178Asn
NM_001130066.2:c.534G>T NP_001123538.1:p.Lys178Asn
NM_006772.3:c.534G>T MANE Select NP_006763.2:p.Lys178Asn