Canonical Allele Identifier: CA494920865

Gene: STX1B

Linked Data

• dbSNP Id: rs775771121
• gnomAD v3: 16-30993220-G-T
• gnomAD v4: 16-30993220-G-T
• MyVariant Identifiers: chr16:g.31004541G>T (hg19) ; chr16:g.30993220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993220G>T , CM000678.2:g.30993220G>T	GRCh38
NC_000016.9:g.31004541G>T , CM000678.1:g.31004541G>T	GRCh37
NC_000016.8:g.30912042G>T	NCBI36
NG_041829.1:g.22289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.696C>A MANE Select	ENSP00000215095.5:p.Ile232=
ENST00000565419.2:c.696C>A	ENSP00000455899.1:p.Ile232=
ENST00000215095.9:c.696C>A	ENSP00000215095.5:p.Ile232=
ENST00000565419.1:c.696C>A	ENSP00000455899.1:p.Ile232=
ENST00000569638.5:c.444C>A	ENSP00000457067.1:p.Ile148=
NM_052874.4:c.696C>A	NP_443106.1:p.Ile232=
XM_017022893.1:c.678C>A	XP_016878382.1:p.Ile226=
NM_052874.5:c.696C>A MANE Select	NP_443106.1:p.Ile232=