Canonical Allele Identifier: CA395646954

Gene: STX1B

Linked Data

• MyVariant Identifiers: chr16:g.31004549C>G (hg19) ; chr16:g.30993228C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993228C>G , CM000678.2:g.30993228C>G	GRCh38
NC_000016.9:g.31004549C>G , CM000678.1:g.31004549C>G	GRCh37
NC_000016.8:g.30912050C>G	NCBI36
NG_041829.1:g.22281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.688G>C MANE Select	ENSP00000215095.5:p.Asp230His
ENST00000565419.2:c.688G>C	ENSP00000455899.1:p.Asp230His
ENST00000215095.9:c.688G>C	ENSP00000215095.5:p.Asp230His
ENST00000565419.1:c.688G>C	ENSP00000455899.1:p.Asp230His
ENST00000569638.5:c.436G>C	ENSP00000457067.1:p.Asp146His
NM_052874.4:c.688G>C	NP_443106.1:p.Asp230His
XM_017022893.1:c.670G>C	XP_016878382.1:p.Asp224His
NM_052874.5:c.688G>C MANE Select	NP_443106.1:p.Asp230His