Canonical Allele Identifier: CA1671023076
Gene: STXBP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.147359223A= , CM000668.2:g.147359223A= GRCh38
NC_000006.11:g.147680359A= , CM000668.1:g.147680359A= GRCh37
NC_000006.10:g.147722052A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367475.7:c.2397A= ENSP00000356445.3:p.Leu799=
ENST00000443556.2:n.2786A=
ENST00000706849.1:c.2337A= ENSP00000516590.1:p.Leu779=
ENST00000706850.1:c.2337A= ENSP00000516591.1:p.Leu779=
ENST00000706851.1:c.*195A= ENSP00000516592.1:n.*195A=
ENST00000706852.1:n.2305A=
ENST00000706853.1:n.2305A=
ENST00000706854.1:c.1902A= ENSP00000516593.1:p.Leu634=
ENST00000706862.1:n.604A=
ENST00000706863.1:n.2786A=
ENST00000321680.11:c.2445A= MANE Select ENSP00000321826.6:p.Leu815=
ENST00000321680.10:c.2445A= ENSP00000321826.6:p.Leu815=
ENST00000367475.6:c.421A=
ENST00000367480.7:c.2286A= ENSP00000356450.3:p.Leu762=
ENST00000367481.7:c.2337A= ENSP00000356451.3:p.Leu779=
ENST00000392291.2:c.417A= ENSP00000376112.2:p.Leu139=
NM_001127715.2:c.2445A= NP_001121187.1:p.Leu815=
NM_139244.4:c.2337A= NP_640337.3:p.Leu779=
XM_006715339.1:c.2397A= XP_006715402.1:p.Leu799=
XM_011535449.1:c.2529A= XP_011533751.1:p.Leu843=
XM_011535450.1:c.2481A= XP_011533752.1:p.Leu827=
XM_011535451.1:c.2421A= XP_011533753.1:p.Leu807=
XM_011535452.1:c.1917A= XP_011533754.1:p.Leu639=
XM_011535453.1:c.1410A= XP_011533755.1:p.Leu470=
XR_245502.1:n.2663A=
XR_245504.1:n.2537A=
XR_942280.1:n.2666A=
XR_942282.1:n.2729A=
XR_942284.1:n.2621A=
XM_006715339.3:c.2397A= XP_006715402.1:p.Leu799=
XM_017010267.1:c.1833A= XP_016865756.1:p.Leu611=
XR_001743163.2:n.2794A=
XR_002956261.1:n.2794A=
XR_245502.3:n.2857A=
XR_245504.2:n.2749A=
NM_001127715.3:c.2445A= NP_001121187.1:p.Leu815=
NM_139244.5:c.2337A= NP_640337.3:p.Leu779=
NM_001127715.4:c.2445A= MANE Select NP_001121187.1:p.Leu815=
NM_001394409.1:c.2397A= NP_001381338.1:p.Leu799=
NM_139244.6:c.2337A= NP_640337.3:p.Leu779=