Canonical Allele Identifier: CA318901

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 207445
• ClinVar RCV Id: RCV000189628 ; RCV001218642
• dbSNP Id: rs796053378
• gnomAD v2: 9-130374718-G-C
• gnomAD v4: 9-127612439-G-C
• MyVariant Identifiers: chr9:g.130374718G>C (hg19) ; chr9:g.127612439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127612439G>C , CM000671.2:g.127612439G>C	GRCh38
NC_000009.11:g.130374718G>C , CM000671.1:g.130374718G>C	GRCh37
NC_000009.10:g.129414539G>C	NCBI36
NG_016623.1:g.5233G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.-102G>C	ENSP00000515991.1:n.-102G>C
ENST00000704681.1:c.36G>C	ENSP00000515992.1:p.Glu12Asp
ENST00000373299.5:c.36G>C MANE Select	ENSP00000362396.2:p.Glu12Asp
ENST00000373302.8:c.36G>C MANE Plus Clinical	ENSP00000362399.3:p.Glu12Asp
ENST00000476182.3:c.36G>C	ENSP00000490199.1:p.Glu12Asp
ENST00000626539.3:c.-6+392G>C	ENSP00000487211.2:n.-6+392G>C
ENST00000635950.2:c.36G>C	ENSP00000490903.1:p.Glu12Asp
ENST00000636509.2:c.-6+392G>C	ENSP00000490810.1:n.-6+392G>C
ENST00000636962.2:c.36G>C	ENSP00000489762.1:p.Glu12Asp
ENST00000637060.2:c.36G>C	ENSP00000490674.2:p.Glu12Asp
ENST00000637173.2:c.-197G>C	ENSP00000490519.1:n.-197G>C
ENST00000637464.2:c.36G>C	ENSP00000489655.2:p.Glu12Asp
ENST00000637521.2:c.-6+32905G>C	ENSP00000489791.1:n.-6+32905G>C
ENST00000637953.1:c.36G>C	ENSP00000490613.1:p.Glu12Asp
ENST00000650920.1:c.-197G>C	ENSP00000498834.1:n.-197G>C
ENST00000373299.4:c.36G>C	ENSP00000362396.1:p.Glu12Asp
ENST00000373302.7:c.36G>C	ENSP00000362399.3:p.Glu12Asp
ENST00000476182.2:n.29G>C
ENST00000625363.2:c.-6+583G>C	ENSP00000486944.1:n.-6+583G>C
ENST00000626539.2:c.-6+392G>C	ENSP00000487211.1:n.-6+392G>C
ENST00000627871.2:c.-74G>C	ENSP00000485895.1:n.-74G>C
ENST00000630492.2:c.-102G>C	ENSP00000485680.1:n.-102G>C
NM_001032221.3:c.36G>C	NP_001027392.1:p.Glu12Asp
NM_003165.3:c.36G>C	NP_003156.1:p.Glu12Asp
NM_001032221.6:c.36G>C MANE Select	NP_001027392.1:p.Glu12Asp
NM_001374306.2:c.36G>C	NP_001361235.1:p.Glu12Asp
NM_001374307.2:c.-102G>C	NP_001361236.1:n.-102G>C
NM_001374308.2:c.-197G>C	NP_001361237.1:n.-197G>C
NM_001374309.2:c.-6+392G>C	NP_001361238.1:n.-6+392G>C
NM_001374310.2:c.-197G>C	NP_001361239.1:n.-197G>C
NM_001374311.2:c.-102G>C	NP_001361240.1:n.-102G>C
NM_001374312.2:c.-109G>C	NP_001361241.1:n.-109G>C
NM_001374313.2:c.36G>C	NP_001361242.1:p.Glu12Asp
NM_001374314.1:c.36G>C	NP_001361243.1:p.Glu12Asp
NM_001374315.2:c.36G>C	NP_001361244.1:p.Glu12Asp
NM_003165.6:c.36G>C MANE Plus Clinical	NP_003156.1:p.Glu12Asp