Canonical Allele Identifier: CA395646822
Gene: STX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 862668
ClinVar RCV Id: RCV001069433
dbSNP Id: rs1246807785
gnomAD v2: 16-31004503-C-T
gnomAD v3: 16-30993182-C-T
gnomAD v4: 16-30993182-C-T
MyVariant Identifiers: chr16:g.31004503C>T (hg19) chr16:g.30993182C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993182C>T , CM000678.2:g.30993182C>T GRCh38
NC_000016.9:g.31004503C>T , CM000678.1:g.31004503C>T GRCh37
NC_000016.8:g.30912004C>T NCBI36
NG_041829.1:g.22327G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.734G>A MANE Select ENSP00000215095.5:p.Arg245Gln
ENST00000565419.2:c.734G>A ENSP00000455899.1:p.Arg245Gln
ENST00000215095.9:c.734G>A ENSP00000215095.5:p.Arg245Gln
ENST00000565419.1:c.734G>A ENSP00000455899.1:p.Arg245Gln
ENST00000569638.5:c.482G>A ENSP00000457067.1:p.Arg161Gln
NM_052874.4:c.734G>A NP_443106.1:p.Arg245Gln
XM_017022893.1:c.716G>A XP_016878382.1:p.Arg239Gln
NM_052874.5:c.734G>A MANE Select NP_443106.1:p.Arg245Gln
Search 100 bp 5'
Search 100 bp 3'