Canonical Allele Identifier: CA173637
Gene: STXBP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 160070
dbSNP Id: rs587784453

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127666236A>G , CM000671.2:g.127666236A>G GRCh38
NC_000009.11:g.130428515A>G , CM000671.1:g.130428515A>G GRCh37
NC_000009.10:g.129468336A>G NCBI36
NG_016623.1:g.59030A>G

Transcript Alleles

HGVS Amino-acid change
NM_001032221.3:c.734A>G VV NP_001027392.1:p.His245Arg
NM_003165.3:c.734A>G VV NP_003156.1:p.His245Arg
ENST00000373299.4:c.734A>G ENSP00000362396.1:p.His245Arg
ENST00000373302.7:c.734A>G ENSP00000362399.3:p.His245Arg
ENST00000626416.2:n.570A>G