Canonical Allele Identifier: CA395646859

Gene: STX1B

Linked Data

• dbSNP Id: rs1207817430
• gnomAD v2: 16-31004519-C-T
• MyVariant Identifiers: chr16:g.31004519C>T (hg19) ; chr16:g.30993198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993198C>T , CM000678.2:g.30993198C>T	GRCh38
NC_000016.9:g.31004519C>T , CM000678.1:g.31004519C>T	GRCh37
NC_000016.8:g.30912020C>T	NCBI36
NG_041829.1:g.22311G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.718G>A MANE Select	ENSP00000215095.5:p.Val240Met
ENST00000565419.2:c.718G>A	ENSP00000455899.1:p.Val240Met
ENST00000215095.9:c.718G>A	ENSP00000215095.5:p.Val240Met
ENST00000565419.1:c.718G>A	ENSP00000455899.1:p.Val240Met
ENST00000569638.5:c.466G>A	ENSP00000457067.1:p.Val156Met
NM_052874.4:c.718G>A	NP_443106.1:p.Val240Met
XM_017022893.1:c.700G>A	XP_016878382.1:p.Val234Met
NM_052874.5:c.718G>A MANE Select	NP_443106.1:p.Val240Met