Canonical Allele Identifier: CA173637
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 160070
ClinVar RCV Id: RCV000147705 RCV000636306 RCV001265418
dbSNP Id: rs587784453
MyVariant Identifiers: chr9:g.130428515A>G (hg19) chr9:g.127666236A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127666236A>G , CM000671.2:g.127666236A>G GRCh38
NC_000009.11:g.130428515A>G , CM000671.1:g.130428515A>G GRCh37
NC_000009.10:g.129468336A>G NCBI36
NG_016623.1:g.59030A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000704680.1:c.692A>G ENSP00000515991.1:p.His231Arg
ENST00000704681.1:c.734A>G ENSP00000515992.1:p.His245Arg
ENST00000373299.5:c.734A>G MANE Select ENSP00000362396.2:p.His245Arg
ENST00000373302.8:c.734A>G MANE Plus Clinical ENSP00000362399.3:p.His245Arg
ENST00000626539.3:c.692A>G ENSP00000487211.2:p.His231Arg
ENST00000635950.2:c.734A>G ENSP00000490903.1:p.His245Arg
ENST00000636509.2:c.692A>G ENSP00000490810.1:p.His231Arg
ENST00000636962.2:c.734A>G ENSP00000489762.1:p.His245Arg
ENST00000637060.2:c.*376A>G ENSP00000490674.2:n.*376A>G
ENST00000637173.2:c.692A>G ENSP00000490519.1:p.His231Arg
ENST00000637464.2:c.*1598A>G ENSP00000489655.2:n.*1598A>G
ENST00000637521.2:c.692A>G ENSP00000489791.1:p.His231Arg
ENST00000637953.1:c.734A>G ENSP00000490613.1:p.His245Arg
ENST00000647107.1:c.676A>G
ENST00000650920.1:c.692A>G ENSP00000498834.1:p.His231Arg
ENST00000373299.4:c.734A>G ENSP00000362396.1:p.His245Arg
ENST00000373302.7:c.734A>G ENSP00000362399.3:p.His245Arg
ENST00000626416.2:n.570A>G
NM_001032221.3:c.734A>G NP_001027392.1:p.His245Arg
NM_003165.3:c.734A>G NP_003156.1:p.His245Arg
NM_001032221.6:c.734A>G MANE Select NP_001027392.1:p.His245Arg
NM_001374306.2:c.725A>G NP_001361235.1:p.His242Arg
NM_001374307.2:c.692A>G NP_001361236.1:p.His231Arg
NM_001374308.2:c.692A>G NP_001361237.1:p.His231Arg
NM_001374309.2:c.692A>G NP_001361238.1:p.His231Arg
NM_001374310.2:c.692A>G NP_001361239.1:p.His231Arg
NM_001374311.2:c.692A>G NP_001361240.1:p.His231Arg
NM_001374312.2:c.692A>G NP_001361241.1:p.His231Arg
NM_001374313.2:c.734A>G NP_001361242.1:p.His245Arg
NM_001374314.1:c.734A>G NP_001361243.1:p.His245Arg
NM_001374315.2:c.734A>G NP_001361244.1:p.His245Arg
NM_003165.6:c.734A>G MANE Plus Clinical NP_003156.1:p.His245Arg
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