Canonical Allele Identifier: CA16042633
Gene: STXBP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372559
ClinVar RCV Id: RCV000414453
dbSNP Id: rs1057517856

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127672099C>T , CM000671.2:g.127672099C>T GRCh38
NC_000009.10:g.129474199C>T NCBI36
NC_000009.11:g.130434378C>T , CM000671.1:g.130434378C>T GRCh37
NG_016623.1:g.64893C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373299.4:c.1012C>T ENSP00000362396.1:p.Gln338Ter
ENST00000373302.7:c.1012C>T ENSP00000362399.3:p.Gln338Ter
ENST00000626416.2:n.848C>T
NM_001032221.3:c.1012C>T NP_001027392.1:p.Gln338Ter
NM_003165.3:c.1012C>T NP_003156.1:p.Gln338Ter