Canonical Allele Identifier: CA374939601
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1777718
ClinVar RCV Id: RCV002405879
dbSNP Id: rs796053376

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127682530C>A , CM000671.2:g.127682530C>A GRCh38
NC_000009.11:g.130444809C>A , CM000671.1:g.130444809C>A GRCh37
NC_000009.10:g.129484630C>A NCBI36
NG_016623.1:g.75324C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704680.1:c.1630C>A ENSP00000515991.1:p.Gln544Lys
ENST00000704681.1:c.1617C>A ENSP00000515992.1:n.1617C>A
ENST00000373299.5:c.1672C>A MANE Select ENSP00000362396.2:p.Gln558Lys
ENST00000373302.8:c.1672C>A MANE Plus Clinical ENSP00000362399.3:p.Gln558Lys
ENST00000626539.3:c.1630C>A ENSP00000487211.2:p.Gln544Lys
ENST00000635950.2:c.1672C>A ENSP00000490903.1:p.Gln558Lys
ENST00000636509.2:c.*627C>A ENSP00000490810.1:n.*627C>A
ENST00000636962.2:c.1672C>A ENSP00000489762.1:p.Gln558Lys
ENST00000637060.2:c.*1314C>A ENSP00000490674.2:n.*1314C>A
ENST00000637173.2:c.1630C>A ENSP00000490519.1:p.Gln544Lys
ENST00000637464.2:c.*2536C>A ENSP00000489655.2:n.*2536C>A
ENST00000637521.2:c.1630C>A ENSP00000489791.1:p.Gln544Lys
ENST00000637953.1:c.1672C>A ENSP00000490613.1:p.Gln558Lys
ENST00000647107.1:c.1614C>A
ENST00000650920.1:c.1630C>A ENSP00000498834.1:p.Gln544Lys
ENST00000373299.4:c.1672C>A ENSP00000362396.1:p.Gln558Lys
ENST00000373302.7:c.1672C>A ENSP00000362399.3:p.Gln558Lys
ENST00000494254.3:c.220C>A ENSP00000485397.1:p.Gln74Lys
ENST00000626416.2:n.1508C>A
ENST00000628638.1:n.264C>A
NM_001032221.3:c.1672C>A NP_001027392.1:p.Gln558Lys
NM_003165.3:c.1672C>A NP_003156.1:p.Gln558Lys
NM_001032221.6:c.1672C>A MANE Select NP_001027392.1:p.Gln558Lys
NM_001374306.2:c.1663C>A NP_001361235.1:p.Gln555Lys
NM_001374307.2:c.1630C>A NP_001361236.1:p.Gln544Lys
NM_001374308.2:c.1630C>A NP_001361237.1:p.Gln544Lys
NM_001374309.2:c.1630C>A NP_001361238.1:p.Gln544Lys
NM_001374310.2:c.1630C>A NP_001361239.1:p.Gln544Lys
NM_001374311.2:c.1630C>A NP_001361240.1:p.Gln544Lys
NM_001374312.2:c.1630C>A NP_001361241.1:p.Gln544Lys
NM_001374313.2:c.1672C>A NP_001361242.1:p.Gln558Lys
NM_001374314.1:c.1672C>A NP_001361243.1:p.Gln558Lys
NM_001374315.2:c.1564C>A NP_001361244.1:p.Gln522Lys
NM_003165.6:c.1672C>A MANE Plus Clinical NP_003156.1:p.Gln558Lys