Canonical Allele Identifier: CA175022
Gene: STX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 162399
ClinVar RCV Id: RCV000149794
dbSNP Id: rs727502806
MyVariant Identifiers: chr16:g.31004561C>G (hg19) chr16:g.30993240C>G (hg38)
PubMed: PMID:25362483
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993240C>G , CM000678.2:g.30993240C>G GRCh38
NC_000016.9:g.31004561C>G , CM000678.1:g.31004561C>G GRCh37
NC_000016.8:g.30912062C>G NCBI36
NG_041829.1:g.22269G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000215095.11:c.676G>C MANE Select ENSP00000215095.5:p.Gly226Arg
ENST00000565419.2:c.676G>C ENSP00000455899.1:p.Gly226Arg
ENST00000215095.9:c.676G>C ENSP00000215095.5:p.Gly226Arg
ENST00000565419.1:c.676G>C ENSP00000455899.1:p.Gly226Arg
ENST00000569638.5:c.424G>C ENSP00000457067.1:p.Gly142Arg
NM_052874.4:c.676G>C NP_443106.1:p.Gly226Arg
XM_017022893.1:c.658G>C XP_016878382.1:p.Gly220Arg
NM_052874.5:c.676G>C MANE Select NP_443106.1:p.Gly226Arg
Search 100 bp 5'
Search 100 bp 3'