Canonical Allele Identifier: CA318852

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 207418
• ClinVar RCV Id: RCV000189600 ; RCV000796165 ; RCV001003592 ; RCV002272167 ; RCV002345682
• dbSNP Id: rs796053356
• MyVariant Identifiers: chr9:g.130425623G>A (hg19) ; chr9:g.127663344G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127663344G>A , CM000671.2:g.127663344G>A	GRCh38
NC_000009.11:g.130425623G>A , CM000671.1:g.130425623G>A	GRCh37
NC_000009.10:g.129465444G>A	NCBI36
NG_016623.1:g.56138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.527G>A	ENSP00000515991.1:p.Arg176Gln
ENST00000704681.1:c.569G>A	ENSP00000515992.1:p.Arg190Gln
ENST00000373299.5:c.569G>A MANE Select	ENSP00000362396.2:p.Arg190Gln
ENST00000373302.8:c.569G>A MANE Plus Clinical	ENSP00000362399.3:p.Arg190Gln
ENST00000626539.3:c.527G>A	ENSP00000487211.2:p.Arg176Gln
ENST00000635950.2:c.569G>A	ENSP00000490903.1:p.Arg190Gln
ENST00000636509.2:c.527G>A	ENSP00000490810.1:p.Arg176Gln
ENST00000636962.2:c.569G>A	ENSP00000489762.1:p.Arg190Gln
ENST00000637060.2:c.*211G>A	ENSP00000490674.2:n.*211G>A
ENST00000637173.2:c.527G>A	ENSP00000490519.1:p.Arg176Gln
ENST00000637464.2:c.*1433G>A	ENSP00000489655.2:n.*1433G>A
ENST00000637521.2:c.527G>A	ENSP00000489791.1:p.Arg176Gln
ENST00000637953.1:c.569G>A	ENSP00000490613.1:p.Arg190Gln
ENST00000647107.1:c.511G>A
ENST00000650920.1:c.527G>A	ENSP00000498834.1:p.Arg176Gln
ENST00000373299.4:c.569G>A	ENSP00000362396.1:p.Arg190Gln
ENST00000373302.7:c.569G>A	ENSP00000362399.3:p.Arg190Gln
ENST00000496504.3:c.213G>A
ENST00000626416.2:n.405G>A
NM_001032221.3:c.569G>A	NP_001027392.1:p.Arg190Gln
NM_003165.3:c.569G>A	NP_003156.1:p.Arg190Gln
NM_001032221.6:c.569G>A MANE Select	NP_001027392.1:p.Arg190Gln
NM_001374306.2:c.560G>A	NP_001361235.1:p.Arg187Gln
NM_001374307.2:c.527G>A	NP_001361236.1:p.Arg176Gln
NM_001374308.2:c.527G>A	NP_001361237.1:p.Arg176Gln
NM_001374309.2:c.527G>A	NP_001361238.1:p.Arg176Gln
NM_001374310.2:c.527G>A	NP_001361239.1:p.Arg176Gln
NM_001374311.2:c.527G>A	NP_001361240.1:p.Arg176Gln
NM_001374312.2:c.527G>A	NP_001361241.1:p.Arg176Gln
NM_001374313.2:c.569G>A	NP_001361242.1:p.Arg190Gln
NM_001374314.1:c.569G>A	NP_001361243.1:p.Arg190Gln
NM_001374315.2:c.569G>A	NP_001361244.1:p.Arg190Gln
NM_003165.6:c.569G>A MANE Plus Clinical	NP_003156.1:p.Arg190Gln