Canonical Allele Identifier: CA2573144059

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 1350456
• ClinVar RCV Id: RCV002051333
• dbSNP Id: rs2131472724

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127666227_127666228insGGG , CM000671.2:g.127666227_127666228insGGG	GRCh38
NC_000009.11:g.130428506_130428507insGGG , CM000671.1:g.130428506_130428507insGGG	GRCh37
NC_000009.10:g.129468327_129468328insGGG	NCBI36
NG_016623.1:g.59021_59022insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.683_684insGGG	ENSP00000515991.1:p.Pro228_Val229insGly
ENST00000704681.1:c.725_726insGGG	ENSP00000515992.1:p.Pro242_Val243insGly
ENST00000373299.5:c.725_726insGGG MANE Select	ENSP00000362396.2:p.Pro242_Val243insGly
ENST00000373302.8:c.725_726insGGG MANE Plus Clinical	ENSP00000362399.3:p.Pro242_Val243insGly
ENST00000626539.3:c.683_684insGGG	ENSP00000487211.2:p.Pro228_Val229insGly
ENST00000635950.2:c.725_726insGGG	ENSP00000490903.1:p.Pro242_Val243insGly
ENST00000636509.2:c.683_684insGGG	ENSP00000490810.1:p.Pro228_Val229insGly
ENST00000636962.2:c.725_726insGGG	ENSP00000489762.1:p.Pro242_Val243insGly
ENST00000637060.2:c.*367_*368insGGG	ENSP00000490674.2:n.*367_*368insGGG
ENST00000637173.2:c.683_684insGGG	ENSP00000490519.1:p.Pro228_Val229insGly
ENST00000637464.2:c.*1589_*1590insGGG	ENSP00000489655.2:n.*1589_*1590insGGG
ENST00000637521.2:c.683_684insGGG	ENSP00000489791.1:p.Pro228_Val229insGly
ENST00000637953.1:c.725_726insGGG	ENSP00000490613.1:p.Pro242_Val243insGly
ENST00000647107.1:c.667_668insGGG
ENST00000650920.1:c.683_684insGGG	ENSP00000498834.1:p.Pro228_Val229insGly
ENST00000373299.4:c.725_726insGGG	ENSP00000362396.1:p.Pro242_Val243insGly
ENST00000373302.7:c.725_726insGGG	ENSP00000362399.3:p.Pro242_Val243insGly
ENST00000626416.2:n.561_562insGGG
NM_001032221.3:c.725_726insGGG	NP_001027392.1:p.Pro242_Val243insGly
NM_003165.3:c.725_726insGGG	NP_003156.1:p.Pro242_Val243insGly
NM_001032221.6:c.725_726insGGG MANE Select	NP_001027392.1:p.Pro242_Val243insGly
NM_001374306.2:c.716_717insGGG	NP_001361235.1:p.Pro239_Val240insGly
NM_001374307.2:c.683_684insGGG	NP_001361236.1:p.Pro228_Val229insGly
NM_001374308.2:c.683_684insGGG	NP_001361237.1:p.Pro228_Val229insGly
NM_001374309.2:c.683_684insGGG	NP_001361238.1:p.Pro228_Val229insGly
NM_001374310.2:c.683_684insGGG	NP_001361239.1:p.Pro228_Val229insGly
NM_001374311.2:c.683_684insGGG	NP_001361240.1:p.Pro228_Val229insGly
NM_001374312.2:c.683_684insGGG	NP_001361241.1:p.Pro228_Val229insGly
NM_001374313.2:c.725_726insGGG	NP_001361242.1:p.Pro242_Val243insGly
NM_001374314.1:c.725_726insGGG	NP_001361243.1:p.Pro242_Val243insGly
NM_001374315.2:c.725_726insGGG	NP_001361244.1:p.Pro242_Val243insGly
NM_003165.6:c.725_726insGGG MANE Plus Clinical	NP_003156.1:p.Pro242_Val243insGly