Canonical Allele Identifier: CA302345
Gene: STXBP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 191238
dbSNP Id: rs786205598

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127668159C>T , CM000671.2:g.127668159C>T GRCh38
NC_000009.11:g.130430438C>T , CM000671.1:g.130430438C>T GRCh37
NC_000009.10:g.129470259C>T NCBI36
NG_016623.1:g.60953C>T

Transcript Alleles

HGVS Amino-acid change
NM_001032221.3:c.874C>T VV NP_001027392.1:p.Arg292Cys
NM_003165.3:c.874C>T VV NP_003156.1:p.Arg292Cys
ENST00000373299.4:c.874C>T ENSP00000362396.1:p.Arg292Cys
ENST00000373302.7:c.874C>T ENSP00000362399.3:p.Arg292Cys
ENST00000626416.2:n.710C>T