Canonical Allele Identifier: CA395646830

Gene: STX1B

Linked Data

• dbSNP Id: rs1161941498
• gnomAD v3: 16-30993186-C-G
• gnomAD v4: 16-30993186-C-G
• MyVariant Identifiers: chr16:g.31004507C>G (hg19) ; chr16:g.30993186C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993186C>G , CM000678.2:g.30993186C>G	GRCh38
NC_000016.9:g.31004507C>G , CM000678.1:g.31004507C>G	GRCh37
NC_000016.8:g.30912008C>G	NCBI36
NG_041829.1:g.22323G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.730G>C MANE Select	ENSP00000215095.5:p.Glu244Gln
ENST00000565419.2:c.730G>C	ENSP00000455899.1:p.Glu244Gln
ENST00000215095.9:c.730G>C	ENSP00000215095.5:p.Glu244Gln
ENST00000565419.1:c.730G>C	ENSP00000455899.1:p.Glu244Gln
ENST00000569638.5:c.478G>C	ENSP00000457067.1:p.Glu160Gln
NM_052874.4:c.730G>C	NP_443106.1:p.Glu244Gln
XM_017022893.1:c.712G>C	XP_016878382.1:p.Glu238Gln
NM_052874.5:c.730G>C MANE Select	NP_443106.1:p.Glu244Gln