Canonical Allele Identifier: CA12211444

Gene: STXBP5

Linked Data

• dbSNP Id: rs2786189
• gnomAD v2: 6-147531081-G-T
• gnomAD v3: 6-147209945-G-T
• gnomAD v4: 6-147209945-G-T
• MyVariant Identifiers: chr6:g.147531081G>T (hg19) ; chr6:g.147209945G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147209945G>T , CM000668.2:g.147209945G>T	GRCh38
NC_000006.11:g.147531081G>T , CM000668.1:g.147531081G>T	GRCh37
NC_000006.10:g.147572774G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000367475.7:c.248+3877G>T	ENSP00000356445.3:n.248+3877G>T
ENST00000706848.1:n.601+3877G>T
ENST00000706849.1:c.248+3877G>T	ENSP00000516590.1:n.248+3877G>T
ENST00000706850.1:c.248+3877G>T	ENSP00000516591.1:n.248+3877G>T
ENST00000706851.1:c.248+3877G>T	ENSP00000516592.1:n.248+3877G>T
ENST00000706852.1:n.216+3877G>T
ENST00000706853.1:n.216+3877G>T
ENST00000706854.1:c.-296+3877G>T	ENSP00000516593.1:n.-296+3877G>T
ENST00000321680.11:c.248+3877G>T MANE Select	ENSP00000321826.6:n.248+3877G>T
ENST00000321680.10:c.248+3877G>T	ENSP00000321826.6:n.248+3877G>T
ENST00000367480.7:c.248+3877G>T	ENSP00000356450.3:n.248+3877G>T
ENST00000367481.7:c.248+3877G>T	ENSP00000356451.3:n.248+3877G>T
ENST00000546097.5:c.248+3877G>T	ENSP00000441479.1:n.248+3877G>T
NM_001127715.2:c.248+3877G>T	NP_001121187.1:n.248+3877G>T
NM_139244.4:c.248+3877G>T	NP_640337.3:n.248+3877G>T
XM_006715339.1:c.248+3877G>T	XP_006715402.1:n.248+3877G>T
XM_011535449.1:c.248+3877G>T	XP_011533751.1:n.248+3877G>T
XM_011535450.1:c.248+3877G>T	XP_011533752.1:n.248+3877G>T
XM_011535451.1:c.248+3877G>T	XP_011533753.1:n.248+3877G>T
XM_011535453.1:c.-835+3877G>T	XP_011533755.1:n.-835+3877G>T
XM_011535454.1:c.248+3877G>T	XP_011533756.1:n.248+3877G>T
XR_245502.1:n.403+3877G>T
XR_245504.1:n.385+3877G>T
XR_942280.1:n.385+3877G>T
XR_942282.1:n.385+3877G>T
XR_942284.1:n.385+3877G>T
XR_942285.1:n.385+3877G>T
XM_006715339.3:c.248+3877G>T	XP_006715402.1:n.248+3877G>T
XM_017010268.2:c.248+3877G>T	XP_016865757.1:n.248+3877G>T
XR_001743163.2:n.597+3877G>T
XR_002956261.1:n.597+3877G>T
XR_245502.3:n.597+3877G>T
XR_245504.2:n.597+3877G>T
NM_001127715.3:c.248+3877G>T	NP_001121187.1:n.248+3877G>T
NM_139244.5:c.248+3877G>T	NP_640337.3:n.248+3877G>T
NM_001127715.4:c.248+3877G>T MANE Select	NP_001121187.1:n.248+3877G>T
NM_001394409.1:c.248+3877G>T	NP_001381338.1:n.248+3877G>T
NM_139244.6:c.248+3877G>T	NP_640337.3:n.248+3877G>T