Canonical Allele Identifier: CA118450
Gene: STXBP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6727
dbSNP Id: rs121918318

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127663314G>A , CM000671.2:g.127663314G>A GRCh38
NC_000009.11:g.130425593G>A , CM000671.1:g.130425593G>A GRCh37
NC_000009.10:g.129465414G>A NCBI36
NG_016623.1:g.56108G>A

Transcript Alleles

HGVS Amino-acid change
NM_001032221.3:c.539G>A VV NP_001027392.1:p.Cys180Tyr
NM_003165.3:c.539G>A VV NP_003156.1:p.Cys180Tyr
ENST00000373299.4:c.539G>A ENSP00000362396.1:p.Cys180Tyr
ENST00000373302.7:c.539G>A ENSP00000362399.3:p.Cys180Tyr
ENST00000496504.3:n.183G>A
ENST00000626416.2:n.375G>A