Canonical Allele Identifier: CA8018304
Gene: STX1B HGNC NCBI

Linked Data

dbSNP Id: rs768813995
ExAC: 16:31004661 C / G
gnomAD v2: 16-31004661-C-G
gnomAD v3: 16-30993340-C-G
gnomAD v4: 16-30993340-C-G
MyVariant Identifiers: chr16:g.31004661C>G (hg19) chr16:g.30993340C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30993340C>G , CM000678.2:g.30993340C>G GRCh38
NC_000016.9:g.31004661C>G , CM000678.1:g.31004661C>G GRCh37
NC_000016.8:g.30912162C>G NCBI36
NG_041829.1:g.22169G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000215095.11:c.675+7G>C MANE Select ENSP00000215095.5:n.675+7G>C
ENST00000565419.2:c.675+7G>C ENSP00000455899.1:n.675+7G>C
ENST00000215095.9:c.675+7G>C ENSP00000215095.5:n.675+7G>C
ENST00000565419.1:c.675+7G>C ENSP00000455899.1:n.675+7G>C
ENST00000569638.5:c.423+7G>C ENSP00000457067.1:n.423+7G>C
NM_052874.4:c.675+7G>C NP_443106.1:n.675+7G>C
XM_017022893.1:c.657+7G>C XP_016878382.1:n.657+7G>C
NM_052874.5:c.675+7G>C MANE Select NP_443106.1:n.675+7G>C
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