Canonical Allele Identifier: CA280574908
Gene: STX1B HGNC NCBI

Linked Data

dbSNP Id: rs932496817
gnomAD v3: 16-30999821-C-T
gnomAD v4: 16-30999821-C-T
MyVariant Identifiers: chr16:g.31011142C>T (hg19) chr16:g.30999821C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30999821C>T , CM000678.2:g.30999821C>T GRCh38
NC_000016.9:g.31011142C>T , CM000678.1:g.31011142C>T GRCh37
NC_000016.8:g.30918643C>T NCBI36
NG_041829.1:g.15688G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.280+1107G>A MANE Select ENSP00000215095.5:n.280+1107G>A
ENST00000565419.2:c.280+1107G>A ENSP00000455899.1:n.280+1107G>A
ENST00000215095.9:c.280+1107G>A ENSP00000215095.5:n.280+1107G>A
ENST00000565419.1:c.280+1107G>A ENSP00000455899.1:n.280+1107G>A
ENST00000569638.5:c.28+1107G>A ENSP00000457067.1:n.28+1107G>A
NM_052874.4:c.280+1107G>A NP_443106.1:n.280+1107G>A
XM_017022893.1:c.262+1107G>A XP_016878382.1:n.262+1107G>A
NM_052874.5:c.280+1107G>A MANE Select NP_443106.1:n.280+1107G>A
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