Canonical Allele Identifier: CA8018303
Gene: STX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2147823
ClinVar RCV Id: RCV003068542
dbSNP Id: rs375916889

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993336A>G , CM000678.2:g.30993336A>G GRCh38
NC_000016.9:g.31004657A>G , CM000678.1:g.31004657A>G GRCh37
NC_000016.8:g.30912158A>G NCBI36
NG_041829.1:g.22173T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.675+11T>C MANE Select ENSP00000215095.5:n.675+11T>C
ENST00000565419.2:c.675+11T>C ENSP00000455899.1:n.675+11T>C
ENST00000215095.9:c.675+11T>C ENSP00000215095.5:n.675+11T>C
ENST00000565419.1:c.675+11T>C ENSP00000455899.1:n.675+11T>C
ENST00000569638.5:c.423+11T>C ENSP00000457067.1:n.423+11T>C
NM_052874.4:c.675+11T>C NP_443106.1:n.675+11T>C
XM_017022893.1:c.657+11T>C XP_016878382.1:n.657+11T>C
NM_052874.5:c.675+11T>C MANE Select NP_443106.1:n.675+11T>C