Canonical Allele Identifier: CA16612695
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 407778
ClinVar RCV Id: RCV000470907
dbSNP Id: rs1060501723

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127660048del , CM000671.2:g.127660048del GRCh38
NC_000009.11:g.130422327del , CM000671.1:g.130422327del GRCh37
NC_000009.10:g.129462148del NCBI36
NG_016623.1:g.52842del

Transcript Alleles

HGVS Amino-acid change
ENST00000704680.1:c.223del ENSP00000515991.1:p.Ser75ValfsTer?
ENST00000704681.1:c.265del ENSP00000515992.1:p.Ser89ValfsTer?
ENST00000373299.5:c.265del MANE Select ENSP00000362396.2:p.Ser89ValfsTer?
ENST00000373302.8:c.265del MANE Plus Clinical ENSP00000362399.3:p.Ser89ValfsTer?
ENST00000626539.3:c.223del ENSP00000487211.2:p.Ser75ValfsTer?
ENST00000635950.2:c.265del ENSP00000490903.1:p.Ser89ValfsTer?
ENST00000636509.2:c.223del ENSP00000490810.1:p.Ser75ValfsTer?
ENST00000636962.2:c.265del ENSP00000489762.1:p.Ser89ValfsTer?
ENST00000637060.2:c.288del ENSP00000490674.2:p.Val97Ter
ENST00000637173.2:c.223del ENSP00000490519.1:p.Ser75ValfsTer?
ENST00000637464.2:c.*1129del ENSP00000489655.2:n.*1129del
ENST00000637521.2:c.223del ENSP00000489791.1:p.Ser75ValfsTer?
ENST00000637953.1:c.265del ENSP00000490613.1:p.Ser89ValfsTer?
ENST00000647107.1:c.207del
ENST00000650920.1:c.223del ENSP00000498834.1:p.Ser75ValfsTer?
ENST00000373299.4:c.265del ENSP00000362396.1:p.Ser89ValfsTer?
ENST00000373302.7:c.265del ENSP00000362399.3:p.Ser89ValfsTer?
ENST00000625363.2:c.223del ENSP00000486944.1:p.Ser75ValfsTer?
ENST00000626333.1:c.223del ENSP00000486814.1:p.Ser75ValfsTer?
ENST00000626539.2:c.223del ENSP00000487211.1:p.Ser75ValfsTer?
ENST00000627871.2:c.154del ENSP00000485895.1:p.Ser52ValfsTer?
ENST00000630492.2:c.223del ENSP00000485680.1:p.Ser75ValfsTer?
NM_001032221.3:c.265del NP_001027392.1:p.Ser89ValfsTer?
NM_003165.3:c.265del NP_003156.1:p.Ser89ValfsTer?
NM_001032221.6:c.265del MANE Select NP_001027392.1:p.Ser89ValfsTer?
NM_001374306.2:c.265del NP_001361235.1:p.Ser89ValfsTer28
NM_001374307.2:c.223del NP_001361236.1:p.Ser75ValfsTer?
NM_001374308.2:c.223del NP_001361237.1:p.Ser75ValfsTer?
NM_001374309.2:c.223del NP_001361238.1:p.Ser75ValfsTer?
NM_001374310.2:c.223del NP_001361239.1:p.Ser75ValfsTer?
NM_001374311.2:c.223del NP_001361240.1:p.Ser75ValfsTer?
NM_001374312.2:c.223del NP_001361241.1:p.Ser75ValfsTer?
NM_001374313.2:c.265del NP_001361242.1:p.Ser89ValfsTer?
NM_001374314.1:c.265del NP_001361243.1:p.Ser89ValfsTer?
NM_001374315.2:c.265del NP_001361244.1:p.Ser89ValfsTer?
NM_003165.6:c.265del MANE Plus Clinical NP_003156.1:p.Ser89ValfsTer?