Canonical Allele Identifier: CA375173605

Gene: STXBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127612441G>A , CM000671.2:g.127612441G>A	GRCh38
NC_000009.11:g.130374720G>A , CM000671.1:g.130374720G>A	GRCh37
NC_000009.10:g.129414541G>A	NCBI36
NG_016623.1:g.5235G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001032221.6:c.37+1G>A MANE Select	NP_001027392.1:n.37+1G>A
ENST00000373299.5:c.37+1G>A MANE Select	ENSP00000362396.2:n.37+1G>A
NM_003165.6:c.37+1G>A MANE Plus Clinical	NP_003156.1:n.37+1G>A
ENST00000373302.8:c.37+1G>A MANE Plus Clinical	ENSP00000362399.3:n.37+1G>A
NM_001032221.3:c.37+1G>A	NP_001027392.1:n.37+1G>A
NM_001374306.2:c.37+1G>A	NP_001361235.1:n.37+1G>A
NM_001374307.2:c.-101+1G>A	NP_001361236.1:n.-101+1G>A
NM_001374308.2:c.-196+1G>A	NP_001361237.1:n.-196+1G>A
NM_001374309.2:c.-6+394G>A	NP_001361238.1:n.-6+394G>A
NM_001374310.2:c.-196+1G>A	NP_001361239.1:n.-196+1G>A
NM_001374311.2:c.-101+1G>A	NP_001361240.1:n.-101+1G>A
NM_001374312.2:c.-108+1G>A	NP_001361241.1:n.-108+1G>A
NM_001374313.2:c.37+1G>A	NP_001361242.1:n.37+1G>A
NM_001374314.1:c.37+1G>A	NP_001361243.1:n.37+1G>A
NM_001374315.2:c.37+1G>A	NP_001361244.1:n.37+1G>A
NM_003165.3:c.37+1G>A	NP_003156.1:n.37+1G>A
ENST00000373299.4:c.37+1G>A	ENSP00000362396.1:n.37+1G>A
ENST00000373302.7:c.37+1G>A	ENSP00000362399.3:n.37+1G>A
ENST00000476182.2:n.30+1G>A
ENST00000476182.3:c.37+1G>A	ENSP00000490199.1:n.37+1G>A
ENST00000625363.2:c.-6+585G>A	ENSP00000486944.1:n.-6+585G>A
ENST00000626539.2:c.-6+394G>A	ENSP00000487211.1:n.-6+394G>A
ENST00000626539.3:c.-6+394G>A	ENSP00000487211.2:n.-6+394G>A
ENST00000627871.2:c.-73+1G>A	ENSP00000485895.1:n.-73+1G>A
ENST00000630492.2:c.-101+1G>A	ENSP00000485680.1:n.-101+1G>A
ENST00000635950.2:c.37+1G>A	ENSP00000490903.1:n.37+1G>A
ENST00000636509.2:c.-6+394G>A	ENSP00000490810.1:n.-6+394G>A
ENST00000636962.2:c.37+1G>A	ENSP00000489762.1:n.37+1G>A
ENST00000637060.2:c.37+1G>A	ENSP00000490674.2:n.37+1G>A
ENST00000637173.2:c.-196+1G>A	ENSP00000490519.1:n.-196+1G>A
ENST00000637464.2:c.37+1G>A	ENSP00000489655.2:n.37+1G>A
ENST00000637521.2:c.-6+32907G>A	ENSP00000489791.1:n.-6+32907G>A
ENST00000637953.1:c.37+1G>A	ENSP00000490613.1:n.37+1G>A
ENST00000650920.1:c.-196+1G>A	ENSP00000498834.1:n.-196+1G>A
ENST00000704680.1:c.-101+1G>A	ENSP00000515991.1:n.-101+1G>A
ENST00000704681.1:c.37+1G>A	ENSP00000515992.1:n.37+1G>A