Canonical Allele Identifier: CA2573143964

Gene: STXBP1

Linked Data

• ClinVar Variation Id: 1691863
• ClinVar RCV Id: RCV002255243
• dbSNP Id: rs2131536257

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127682530delinsAACGGAAAGTGGGAGGTGGGAGG , CM000671.2:g.127682530delinsAACGGAAAGTGGGAGGTGGGAGG	GRCh38
NC_000009.11:g.130444809delinsAACGGAAAGTGGGAGGTGGGAGG , CM000671.1:g.130444809delinsAACGGAAAGTGGGAGGTGGGAGG	GRCh37
NC_000009.10:g.129484630delinsAACGGAAAGTGGGAGGTGGGAGG	NCBI36
NG_016623.1:g.75324delinsAACGGAAAGTGGGAGGTGGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704680.1:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000515991.1:p.Gln544AsnfsTer37
ENST00000704681.1:c.1617delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000515992.1:n.1617delinsAACGGAAAGTGGGAGGTGGGAGG
ENST00000373299.5:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG MANE Select	ENSP00000362396.2:p.Gln558AsnfsTer37
ENST00000373302.8:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG MANE Plus Clinical	ENSP00000362399.3:p.Gln558AsnfsTer?
ENST00000626539.3:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000487211.2:p.Gln544AsnfsTer37
ENST00000635950.2:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000490903.1:p.Gln558AsnfsTer?
ENST00000636509.2:c.*627delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000490810.1:n.*627delinsAACGGAAAGTGGGAGGTGGGAGG
ENST00000636962.2:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000489762.1:p.Gln558AsnfsTer?
ENST00000637060.2:c.*1314delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000490674.2:n.*1314delinsAACGGAAAGTGGGAGGTGGGAGG
ENST00000637173.2:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000490519.1:p.Gln544AsnfsTer37
ENST00000637464.2:c.*2536delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000489655.2:n.*2536delinsAACGGAAAGTGGGAGGTGGGAGG
ENST00000637521.2:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000489791.1:p.Gln544AsnfsTer?
ENST00000637953.1:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000490613.1:p.Gln558AsnfsTer27
ENST00000647107.1:c.1614delinsAACGGAAAGTGGGAGGTGGGAGG
ENST00000650920.1:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000498834.1:p.Gln544AsnfsTer?
ENST00000373299.4:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000362396.1:p.Gln558AsnfsTer37
ENST00000373302.7:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000362399.3:p.Gln558AsnfsTer?
ENST00000494254.3:c.220delinsAACGGAAAGTGGGAGGTGGGAGG	ENSP00000485397.1:p.Gln74AsnfsTer?
ENST00000626416.2:n.1508delinsAACGGAAAGTGGGAGGTGGGAGG
ENST00000628638.1:n.264delinsAACGGAAAGTGGGAGGTGGGAGG
NM_001032221.3:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001027392.1:p.Gln558AsnfsTer37
NM_003165.3:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG	NP_003156.1:p.Gln558AsnfsTer?
NM_001032221.6:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG MANE Select	NP_001027392.1:p.Gln558AsnfsTer37
NM_001374306.2:c.1663delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001361235.1:p.Gln555AsnfsTer37
NM_001374307.2:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001361236.1:p.Gln544AsnfsTer?
NM_001374308.2:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001361237.1:p.Gln544AsnfsTer?
NM_001374309.2:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001361238.1:p.Gln544AsnfsTer37
NM_001374310.2:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001361239.1:p.Gln544AsnfsTer37
NM_001374311.2:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001361240.1:p.Gln544AsnfsTer37
NM_001374312.2:c.1630delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001361241.1:p.Gln544AsnfsTer37
NM_001374313.2:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001361242.1:p.Gln558AsnfsTer27
NM_001374314.1:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001361243.1:p.Gln558AsnfsTer?
NM_001374315.2:c.1564delinsAACGGAAAGTGGGAGGTGGGAGG	NP_001361244.1:p.Gln522AsnfsTer?
NM_003165.6:c.1672delinsAACGGAAAGTGGGAGGTGGGAGG MANE Plus Clinical	NP_003156.1:p.Gln558AsnfsTer?