Canonical Allele Identifier: CA374934114
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2693125
ClinVar RCV Id: RCV003588952

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127666256A>G , CM000671.2:g.127666256A>G GRCh38
NC_000009.11:g.130428535A>G , CM000671.1:g.130428535A>G GRCh37
NC_000009.10:g.129468356A>G NCBI36
NG_016623.1:g.59050A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704680.1:c.712A>G ENSP00000515991.1:p.Met238Val
ENST00000704681.1:c.754A>G ENSP00000515992.1:p.Met252Val
ENST00000373299.5:c.754A>G MANE Select ENSP00000362396.2:p.Met252Val
ENST00000373302.8:c.754A>G MANE Plus Clinical ENSP00000362399.3:p.Met252Val
ENST00000626539.3:c.712A>G ENSP00000487211.2:p.Met238Val
ENST00000635950.2:c.754A>G ENSP00000490903.1:p.Met252Val
ENST00000636509.2:c.712A>G ENSP00000490810.1:p.Met238Val
ENST00000636962.2:c.754A>G ENSP00000489762.1:p.Met252Val
ENST00000637060.2:c.*396A>G ENSP00000490674.2:n.*396A>G
ENST00000637173.2:c.712A>G ENSP00000490519.1:p.Met238Val
ENST00000637464.2:c.*1618A>G ENSP00000489655.2:n.*1618A>G
ENST00000637521.2:c.712A>G ENSP00000489791.1:p.Met238Val
ENST00000637953.1:c.754A>G ENSP00000490613.1:p.Met252Val
ENST00000647107.1:c.696A>G
ENST00000650920.1:c.712A>G ENSP00000498834.1:p.Met238Val
ENST00000373299.4:c.754A>G ENSP00000362396.1:p.Met252Val
ENST00000373302.7:c.754A>G ENSP00000362399.3:p.Met252Val
ENST00000626416.2:n.590A>G
NM_001032221.3:c.754A>G NP_001027392.1:p.Met252Val
NM_003165.3:c.754A>G NP_003156.1:p.Met252Val
NM_001032221.6:c.754A>G MANE Select NP_001027392.1:p.Met252Val
NM_001374306.2:c.745A>G NP_001361235.1:p.Met249Val
NM_001374307.2:c.712A>G NP_001361236.1:p.Met238Val
NM_001374308.2:c.712A>G NP_001361237.1:p.Met238Val
NM_001374309.2:c.712A>G NP_001361238.1:p.Met238Val
NM_001374310.2:c.712A>G NP_001361239.1:p.Met238Val
NM_001374311.2:c.712A>G NP_001361240.1:p.Met238Val
NM_001374312.2:c.712A>G NP_001361241.1:p.Met238Val
NM_001374313.2:c.754A>G NP_001361242.1:p.Met252Val
NM_001374314.1:c.754A>G NP_001361243.1:p.Met252Val
NM_001374315.2:c.754A>G NP_001361244.1:p.Met252Val
NM_003165.6:c.754A>G MANE Plus Clinical NP_003156.1:p.Met252Val