Canonical Allele Identifier: CA16042628
Gene: STXBP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373045
ClinVar RCV Id: RCV000413558
dbSNP Id: rs1057518167

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127653775dup , CM000671.2:g.127653775dup GRCh38
NC_000009.11:g.130416054dup , CM000671.1:g.130416054dup GRCh37
NC_000009.10:g.129455875dup NCBI36
NG_016623.1:g.46569dup

Transcript Alleles

HGVS Amino-acid change
NM_001032221.3:c.148dup VV NP_001027392.1:p.Ile50AsnfsTer14
NM_003165.3:c.148dup VV NP_003156.1:p.Ile50AsnfsTer14
ENST00000373299.4:c.148dup ENSP00000362396.1:p.Ile50AsnfsTer14
ENST00000373302.7:c.148dup ENSP00000362399.3:p.Ile50AsnfsTer14
ENST00000625363.2:c.106dup ENSP00000486944.1:p.Ile36AsnfsTer14
ENST00000626333.1:c.106dup ENSP00000486814.1:p.Ile36AsnfsTer14
ENST00000626539.2:c.106dup ENSP00000487211.1:p.Ile36AsnfsTer14
ENST00000627871.2:c.37dup ENSP00000485895.1:p.Ile13AsnfsTer14
ENST00000630492.2:c.106dup ENSP00000485680.1:p.Ile36AsnfsTer14