Canonical Allele Identifier: CA622171216

Gene: STX1B

Linked Data

• dbSNP Id: rs1472444733
• gnomAD v2: 16-31004633-G-A
• gnomAD v3: 16-30993312-G-A
• gnomAD v4: 16-30993312-G-A
• MyVariant Identifiers: chr16:g.31004633G>A (hg19) ; chr16:g.30993312G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30993312G>A , CM000678.2:g.30993312G>A	GRCh38
NC_000016.9:g.31004633G>A , CM000678.1:g.31004633G>A	GRCh37
NC_000016.8:g.30912134G>A	NCBI36
NG_041829.1:g.22197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215095.11:c.675+35C>T MANE Select	ENSP00000215095.5:n.675+35C>T
ENST00000565419.2:c.675+35C>T	ENSP00000455899.1:n.675+35C>T
ENST00000215095.9:c.675+35C>T	ENSP00000215095.5:n.675+35C>T
ENST00000565419.1:c.675+35C>T	ENSP00000455899.1:n.675+35C>T
ENST00000569638.5:c.423+35C>T	ENSP00000457067.1:n.423+35C>T
NM_052874.4:c.675+35C>T	NP_443106.1:n.675+35C>T
XM_017022893.1:c.657+35C>T	XP_016878382.1:n.657+35C>T
NM_052874.5:c.675+35C>T MANE Select	NP_443106.1:n.675+35C>T