Canonical Allele Identifier: CA8018299
Gene: STX1B HGNC NCBI

Linked Data

dbSNP Id: rs569534709
ExAC: 16:31004611 G / A
gnomAD v2: 16-31004611-G-A
gnomAD v3: 16-30993290-G-A
gnomAD v4: 16-30993290-G-A
MyVariant Identifiers: chr16:g.31004611G>A (hg19) chr16:g.30993290G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993290G>A , CM000678.2:g.30993290G>A GRCh38
NC_000016.9:g.31004611G>A , CM000678.1:g.31004611G>A GRCh37
NC_000016.8:g.30912112G>A NCBI36
NG_041829.1:g.22219C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.676-50C>T MANE Select ENSP00000215095.5:n.676-50C>T
ENST00000565419.2:c.676-50C>T ENSP00000455899.1:n.676-50C>T
ENST00000215095.9:c.676-50C>T ENSP00000215095.5:n.676-50C>T
ENST00000565419.1:c.676-50C>T ENSP00000455899.1:n.676-50C>T
ENST00000569638.5:c.424-50C>T ENSP00000457067.1:n.424-50C>T
NM_052874.4:c.676-50C>T NP_443106.1:n.676-50C>T
XM_017022893.1:c.658-50C>T XP_016878382.1:n.658-50C>T
NM_052874.5:c.676-50C>T MANE Select NP_443106.1:n.676-50C>T
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