Canonical Allele Identifier: CA8018279

Gene: STX1B

Linked Data

• ClinVar Variation Id: 1147639
• ClinVar RCV Id: RCV001487250
• dbSNP Id: rs747664620
• ExAC: 16:31004511 G / A
• gnomAD v2: 16-31004511-G-A
• gnomAD v4: 16-30993190-G-A
• MyVariant Identifiers: chr16:g.31004511G>A (hg19) ; chr16:g.30993190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993190G>A , CM000678.2:g.30993190G>A	GRCh38
NC_000016.9:g.31004511G>A , CM000678.1:g.31004511G>A	GRCh37
NC_000016.8:g.30912012G>A	NCBI36
NG_041829.1:g.22319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.726C>T MANE Select	ENSP00000215095.5:p.Tyr242=
ENST00000565419.2:c.726C>T	ENSP00000455899.1:p.Tyr242=
ENST00000215095.9:c.726C>T	ENSP00000215095.5:p.Tyr242=
ENST00000565419.1:c.726C>T	ENSP00000455899.1:p.Tyr242=
ENST00000569638.5:c.474C>T	ENSP00000457067.1:p.Tyr158=
NM_052874.4:c.726C>T	NP_443106.1:p.Tyr242=
XM_017022893.1:c.708C>T	XP_016878382.1:p.Tyr236=
NM_052874.5:c.726C>T MANE Select	NP_443106.1:p.Tyr242=