Canonical Allele Identifier: CA374931821

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 1054967
• ClinVar RCV Id: RCV001363563
• dbSNP Id: rs2131451036
• MyVariant Identifiers: chr9:g.130422378T>G (hg19) ; chr9:g.127660099T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127660099T>G , CM000671.2:g.127660099T>G	GRCh38
NC_000009.11:g.130422378T>G , CM000671.1:g.130422378T>G	GRCh37
NC_000009.10:g.129462199T>G	NCBI36
NG_016623.1:g.52893T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.274T>G	ENSP00000515991.1:p.Phe92Val
ENST00000704681.1:c.316T>G	ENSP00000515992.1:p.Phe106Val
ENST00000373299.5:c.316T>G MANE Select	ENSP00000362396.2:p.Phe106Val
ENST00000373302.8:c.316T>G MANE Plus Clinical	ENSP00000362399.3:p.Phe106Val
ENST00000626539.3:c.274T>G	ENSP00000487211.2:p.Phe92Val
ENST00000635950.2:c.316T>G	ENSP00000490903.1:p.Phe106Val
ENST00000636509.2:c.274T>G	ENSP00000490810.1:p.Phe92Val
ENST00000636962.2:c.316T>G	ENSP00000489762.1:p.Phe106Val
ENST00000637060.2:c.339T>G	ENSP00000490674.2:p.Ser113=
ENST00000637173.2:c.274T>G	ENSP00000490519.1:p.Phe92Val
ENST00000637464.2:c.*1180T>G	ENSP00000489655.2:n.*1180T>G
ENST00000637521.2:c.274T>G	ENSP00000489791.1:p.Phe92Val
ENST00000637953.1:c.316T>G	ENSP00000490613.1:p.Phe106Val
ENST00000647107.1:c.258T>G
ENST00000650920.1:c.274T>G	ENSP00000498834.1:p.Phe92Val
ENST00000373299.4:c.316T>G	ENSP00000362396.1:p.Phe106Val
ENST00000373302.7:c.316T>G	ENSP00000362399.3:p.Phe106Val
ENST00000625363.2:c.274T>G	ENSP00000486944.1:p.Phe92Val
ENST00000626333.1:c.274T>G	ENSP00000486814.1:p.Phe92Val
ENST00000626539.2:c.274T>G	ENSP00000487211.1:p.Phe92Val
ENST00000627871.2:c.205T>G	ENSP00000485895.1:p.Phe69Val
ENST00000630492.2:c.274T>G	ENSP00000485680.1:p.Phe92Val
NM_001032221.3:c.316T>G	NP_001027392.1:p.Phe106Val
NM_003165.3:c.316T>G	NP_003156.1:p.Phe106Val
NM_001032221.6:c.316T>G MANE Select	NP_001027392.1:p.Phe106Val
NM_001374306.2:c.316T>G	NP_001361235.1:p.Phe106Val
NM_001374307.2:c.274T>G	NP_001361236.1:p.Phe92Val
NM_001374308.2:c.274T>G	NP_001361237.1:p.Phe92Val
NM_001374309.2:c.274T>G	NP_001361238.1:p.Phe92Val
NM_001374310.2:c.274T>G	NP_001361239.1:p.Phe92Val
NM_001374311.2:c.274T>G	NP_001361240.1:p.Phe92Val
NM_001374312.2:c.274T>G	NP_001361241.1:p.Phe92Val
NM_001374313.2:c.316T>G	NP_001361242.1:p.Phe106Val
NM_001374314.1:c.316T>G	NP_001361243.1:p.Phe106Val
NM_001374315.2:c.316T>G	NP_001361244.1:p.Phe106Val
NM_003165.6:c.316T>G MANE Plus Clinical	NP_003156.1:p.Phe106Val