Canonical Allele Identifier: CA16618740
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423968
ClinVar RCV Id: RCV000483425
dbSNP Id: rs1064796720

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127666250C>T , CM000671.2:g.127666250C>T GRCh38
NC_000009.11:g.130428529C>T , CM000671.1:g.130428529C>T GRCh37
NC_000009.10:g.129468350C>T NCBI36
NG_016623.1:g.59044C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000704680.1:c.706C>T ENSP00000515991.1:p.Gln236Ter
ENST00000704681.1:c.748C>T ENSP00000515992.1:p.Gln250Ter
ENST00000373299.5:c.748C>T MANE Select ENSP00000362396.2:p.Gln250Ter
ENST00000373302.8:c.748C>T MANE Plus Clinical ENSP00000362399.3:p.Gln250Ter
ENST00000626539.3:c.706C>T ENSP00000487211.2:p.Gln236Ter
ENST00000635950.2:c.748C>T ENSP00000490903.1:p.Gln250Ter
ENST00000636509.2:c.706C>T ENSP00000490810.1:p.Gln236Ter
ENST00000636962.2:c.748C>T ENSP00000489762.1:p.Gln250Ter
ENST00000637060.2:c.*390C>T ENSP00000490674.2:n.*390C>T
ENST00000637173.2:c.706C>T ENSP00000490519.1:p.Gln236Ter
ENST00000637464.2:c.*1612C>T ENSP00000489655.2:n.*1612C>T
ENST00000637521.2:c.706C>T ENSP00000489791.1:p.Gln236Ter
ENST00000637953.1:c.748C>T ENSP00000490613.1:p.Gln250Ter
ENST00000647107.1:c.690C>T
ENST00000650920.1:c.706C>T ENSP00000498834.1:p.Gln236Ter
ENST00000373299.4:c.748C>T ENSP00000362396.1:p.Gln250Ter
ENST00000373302.7:c.748C>T ENSP00000362399.3:p.Gln250Ter
ENST00000626416.2:n.584C>T
NM_001032221.3:c.748C>T NP_001027392.1:p.Gln250Ter
NM_003165.3:c.748C>T NP_003156.1:p.Gln250Ter
NM_001032221.6:c.748C>T MANE Select NP_001027392.1:p.Gln250Ter
NM_001374306.2:c.739C>T NP_001361235.1:p.Gln247Ter
NM_001374307.2:c.706C>T NP_001361236.1:p.Gln236Ter
NM_001374308.2:c.706C>T NP_001361237.1:p.Gln236Ter
NM_001374309.2:c.706C>T NP_001361238.1:p.Gln236Ter
NM_001374310.2:c.706C>T NP_001361239.1:p.Gln236Ter
NM_001374311.2:c.706C>T NP_001361240.1:p.Gln236Ter
NM_001374312.2:c.706C>T NP_001361241.1:p.Gln236Ter
NM_001374313.2:c.748C>T NP_001361242.1:p.Gln250Ter
NM_001374314.1:c.748C>T NP_001361243.1:p.Gln250Ter
NM_001374315.2:c.748C>T NP_001361244.1:p.Gln250Ter
NM_003165.6:c.748C>T MANE Plus Clinical NP_003156.1:p.Gln250Ter