Canonical Allele Identifier: CA118448
Gene: STXBP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6726
ClinVar RCV Id: RCV000007118
dbSNP Id: rs121918317

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127682489G>A , CM000671.2:g.127682489G>A GRCh38
NC_000009.11:g.130444768G>A , CM000671.1:g.130444768G>A GRCh37
NC_000009.10:g.129484589G>A NCBI36
NG_016623.1:g.75283G>A

Transcript Alleles

HGVS Amino-acid change
NM_001032221.3:c.1631G>A VV NP_001027392.1:p.Gly544Asp
NM_003165.3:c.1631G>A VV NP_003156.1:p.Gly544Asp
ENST00000373299.4:c.1631G>A ENSP00000362396.1:p.Gly544Asp
ENST00000373302.7:c.1631G>A ENSP00000362399.3:p.Gly544Asp
ENST00000494254.3:n.179G>A ENSP00000485397.1:p.Gly60Asp
ENST00000626416.2:n.1467G>A
ENST00000628638.1:n.223G>A