Canonical Allele Identifier: CA395646823
Gene: STX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 590057
ClinVar RCV Id: RCV001386179 RCV002318239 RCV003321727
dbSNP Id: rs780843272
gnomAD v4: 16-30993183-G-A
MyVariant Identifiers: chr16:g.31004504G>A (hg19) chr16:g.30993183G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993183G>A , CM000678.2:g.30993183G>A GRCh38
NC_000016.9:g.31004504G>A , CM000678.1:g.31004504G>A GRCh37
NC_000016.8:g.30912005G>A NCBI36
NG_041829.1:g.22326C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.733C>T MANE Select ENSP00000215095.5:p.Arg245Ter
ENST00000565419.2:c.733C>T ENSP00000455899.1:p.Arg245Ter
ENST00000215095.9:c.733C>T ENSP00000215095.5:p.Arg245Ter
ENST00000565419.1:c.733C>T ENSP00000455899.1:p.Arg245Ter
ENST00000569638.5:c.481C>T ENSP00000457067.1:p.Arg161Ter
NM_052874.4:c.733C>T NP_443106.1:p.Arg245Ter
XM_017022893.1:c.715C>T XP_016878382.1:p.Arg239Ter
NM_052874.5:c.733C>T MANE Select NP_443106.1:p.Arg245Ter
Search 100 bp 5'
Search 100 bp 3'