Canonical Allele Identifier: CA494920834
Gene: STX1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1133945
ClinVar RCV Id: RCV001468687
dbSNP Id: rs1385008089
gnomAD v3: 16-30993175-C-G
gnomAD v4: 16-30993175-C-G
MyVariant Identifiers: chr16:g.31004496C>G (hg19) chr16:g.30993175C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993175C>G , CM000678.2:g.30993175C>G GRCh38
NC_000016.9:g.31004496C>G , CM000678.1:g.31004496C>G GRCh37
NC_000016.8:g.30911997C>G NCBI36
NG_041829.1:g.22334G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.741G>C MANE Select ENSP00000215095.5:p.Val247=
ENST00000565419.2:c.741G>C ENSP00000455899.1:p.Val247=
ENST00000215095.9:c.741G>C ENSP00000215095.5:p.Val247=
ENST00000565419.1:c.741G>C ENSP00000455899.1:p.Val247=
ENST00000569638.5:c.489G>C ENSP00000457067.1:p.Val163=
NM_052874.4:c.741G>C NP_443106.1:p.Val247=
XM_017022893.1:c.723G>C XP_016878382.1:p.Val241=
NM_052874.5:c.741G>C MANE Select NP_443106.1:p.Val247=
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