Canonical Allele Identifier: CA16607299

Gene: STX1B

Linked Data

• ClinVar Variation Id: 391808
• ClinVar RCV Id: RCV000435289
• dbSNP Id: rs1057524236
• MyVariant Identifiers: chr16:g.31004482T>A (hg19) ; chr16:g.30993161T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993161T>A , CM000678.2:g.30993161T>A	GRCh38
NC_000016.9:g.31004482T>A , CM000678.1:g.31004482T>A	GRCh37
NC_000016.8:g.30911983T>A	NCBI36
NG_041829.1:g.22348A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.755A>T MANE Select	ENSP00000215095.5:p.Lys252Ile
ENST00000565419.2:c.755A>T	ENSP00000455899.1:p.Lys252Ile
ENST00000215095.9:c.755A>T	ENSP00000215095.5:p.Lys252Ile
ENST00000565419.1:c.755A>T	ENSP00000455899.1:p.Lys252Ile
ENST00000569638.5:c.503A>T	ENSP00000457067.1:p.Lys168Ile
NM_052874.4:c.755A>T	NP_443106.1:p.Lys252Ile
XM_017022893.1:c.737A>T	XP_016878382.1:p.Lys246Ile
NM_052874.5:c.755A>T MANE Select	NP_443106.1:p.Lys252Ile