Canonical Allele Identifier: CA15447375

Gene: STXBP5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.147379997T>G , CM000668.2:g.147379997T>G	GRCh38
NC_000006.11:g.147701133T>G , CM000668.1:g.147701133T>G	GRCh37
NC_000006.10:g.147742826T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367475.7:c.3146-2781T>G	ENSP00000356445.3:n.3146-2781T>G
ENST00000443556.2:n.3535-2781T>G
ENST00000706849.1:c.3086-2781T>G	ENSP00000516590.1:n.3086-2781T>G
ENST00000706850.1:c.3086-2781T>G	ENSP00000516591.1:n.3086-2781T>G
ENST00000706851.1:c.*944-2781T>G	ENSP00000516592.1:n.*944-2781T>G
ENST00000706854.1:c.2651-2781T>G	ENSP00000516593.1:n.2651-2781T>G
ENST00000706862.1:n.1353-2781T>G
ENST00000706863.1:n.3831-2781T>G
ENST00000706864.1:n.1523-2781T>G
ENST00000706865.1:n.413-2781T>G
ENST00000321680.11:c.3194-2781T>G MANE Select	ENSP00000321826.6:n.3194-2781T>G
ENST00000321680.10:c.3194-2781T>G	ENSP00000321826.6:n.3194-2781T>G
ENST00000367480.7:c.3035-2781T>G	ENSP00000356450.3:n.3035-2781T>G
ENST00000367481.7:c.3086-2781T>G	ENSP00000356451.3:n.3086-2781T>G
NM_001127715.2:c.3194-2781T>G	NP_001121187.1:n.3194-2781T>G
NM_139244.4:c.3086-2781T>G	NP_640337.3:n.3086-2781T>G
XM_006715339.1:c.3146-2781T>G	XP_006715402.1:n.3146-2781T>G
XM_011535449.1:c.3278-2781T>G	XP_011533751.1:n.3278-2781T>G
XM_011535450.1:c.3230-2781T>G	XP_011533752.1:n.3230-2781T>G
XM_011535451.1:c.3170-2781T>G	XP_011533753.1:n.3170-2781T>G
XM_011535452.1:c.2666-2781T>G	XP_011533754.1:n.2666-2781T>G
XM_011535453.1:c.2159-2781T>G	XP_011533755.1:n.2159-2781T>G
XR_245502.1:n.3412-2781T>G
XR_942280.1:n.3415-2781T>G
XM_006715339.3:c.3146-2781T>G	XP_006715402.1:n.3146-2781T>G
XM_017010267.1:c.2582-2781T>G	XP_016865756.1:n.2582-2781T>G
XR_001743163.2:n.3543-2781T>G
XR_002956261.1:n.3543-2781T>G
XR_245502.3:n.3606-2781T>G
NM_001127715.3:c.3194-2781T>G	NP_001121187.1:n.3194-2781T>G
NM_139244.5:c.3086-2781T>G	NP_640337.3:n.3086-2781T>G
NM_001127715.4:c.3194-2781T>G MANE Select	NP_001121187.1:n.3194-2781T>G
NM_001394409.1:c.3146-2781T>G	NP_001381338.1:n.3146-2781T>G
NM_139244.6:c.3086-2781T>G	NP_640337.3:n.3086-2781T>G