Canonical Allele Identifier: CA395646637

Gene: STX1B

Linked Data

• MyVariant Identifiers: chr16:g.31004466C>A (hg19) ; chr16:g.30993145C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993145C>A , CM000678.2:g.30993145C>A	GRCh38
NC_000016.9:g.31004466C>A , CM000678.1:g.31004466C>A	GRCh37
NC_000016.8:g.30911967C>A	NCBI36
NG_041829.1:g.22364G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.771G>T MANE Select	ENSP00000215095.5:p.Gln257His
ENST00000565419.2:c.771G>T	ENSP00000455899.1:p.Gln257His
ENST00000215095.9:c.771G>T	ENSP00000215095.5:p.Gln257His
ENST00000565419.1:c.771G>T	ENSP00000455899.1:p.Gln257His
ENST00000569638.5:c.519G>T	ENSP00000457067.1:p.Gln173His
NM_052874.4:c.771G>T	NP_443106.1:p.Gln257His
XM_017022893.1:c.753G>T	XP_016878382.1:p.Gln251His
NM_052874.5:c.771G>T MANE Select	NP_443106.1:p.Gln257His