Canonical Allele Identifier: CA318907
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207449
ClinVar RCV Id: RCV000189632
dbSNP Id: rs796053382

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127663354dup , CM000671.2:g.127663354dup GRCh38
NC_000009.11:g.130425633dup , CM000671.1:g.130425633dup GRCh37
NC_000009.10:g.129465454dup NCBI36
NG_016623.1:g.56148dup

Transcript Alleles

HGVS Amino-acid change
ENST00000704680.1:c.536+1dup
ENST00000704681.1:c.578+1dup
ENST00000373299.5:c.578+1dup
ENST00000373302.8:c.578+1dup
ENST00000626539.3:c.536+1dup
ENST00000635950.2:c.578+1dup
ENST00000636509.2:c.536+1dup
ENST00000636962.2:c.578+1dup
ENST00000637060.2:c.*220+1dup
ENST00000637173.2:c.536+1dup
ENST00000637464.2:c.*1442+1dup
ENST00000637521.2:c.536+1dup
ENST00000637953.1:c.578+1dup
ENST00000647107.1:c.520+1dup
ENST00000650920.1:c.536+1dup
ENST00000373299.4:c.578+1dup
ENST00000373302.7:c.578+1dup
ENST00000496504.3:c.223dup
ENST00000626416.2:n.414+1dup
NM_001032221.3:c.578+1dup
NM_003165.3:c.578+1dup
NM_001032221.6:c.578+1dup
NM_001374306.2:c.569+1dup
NM_001374307.2:c.536+1dup
NM_001374308.2:c.536+1dup
NM_001374309.2:c.536+1dup
NM_001374310.2:c.536+1dup
NM_001374311.2:c.536+1dup
NM_001374312.2:c.536+1dup
NM_001374313.2:c.578+1dup
NM_001374314.1:c.578+1dup
NM_001374315.2:c.578+1dup
NM_003165.6:c.578+1dup