Canonical Allele Identifier: CA462445286

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99556450G>A , CM000670.2:g.99556450G>A	GRCh38
NC_000008.10:g.100568678G>A , CM000670.1:g.100568678G>A	GRCh37
NC_000008.9:g.100637854G>A	NCBI36
NG_007098.2:g.548185G>A , LRG_351:g.548185G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.4746G>A MANE Select	NP_689777.3:p.Gln1582=
ENST00000357162.7:c.4746G>A MANE Select	ENSP00000349685.2:p.Gln1582=
NM_017890.5:c.4821G>A MANE Plus Clinical	NP_060360.3:p.Gln1607=
ENST00000358544.7:c.4821G>A MANE Plus Clinical	ENSP00000351346.2:p.Gln1607=
NM_017890.4:c.4821G>A , LRG_351t1:c.4821G>A	NP_060360.3:p.Gln1607=
NM_152564.4:c.4746G>A , LRG_351t2:c.4746G>A	NP_689777.3:p.Gln1582=
ENST00000357162.6:c.4746G>A	ENSP00000349685.2:p.Gln1582=
ENST00000358544.6:c.4821G>A	ENSP00000351346.2:p.Gln1607=
ENST00000496144.5:c.*604G>A	ENSP00000430900.1:n.*604G>A
ENST00000521559.1:c.113-19208G>A
ENST00000682153.1:c.4821G>A	ENSP00000507923.1:p.Gln1607=
ENST00000682358.1:n.4891G>A
ENST00000683334.1:c.*503G>A	ENSP00000507369.1:n.*503G>A
XM_005250800.2:c.4821G>A	XP_005250857.1:p.Gln1607=
XM_005250800.3:c.4821G>A	XP_005250857.1:p.Gln1607=
XM_005250801.3:c.4821G>A	XP_005250858.1:p.Gln1607=
XM_005250801.5:c.4821G>A	XP_005250858.1:p.Gln1607=
XM_006716510.2:c.4821G>A	XP_006716573.1:p.Gln1607=
XM_006716510.3:c.4821G>A	XP_006716573.1:p.Gln1607=
XM_011516848.1:c.4818G>A	XP_011515150.1:p.Gln1606=
XM_011516848.2:c.4818G>A	XP_011515150.1:p.Gln1606=
XM_011516849.1:c.4743G>A	XP_011515151.1:p.Gln1581=
XM_011516849.2:c.4743G>A	XP_011515151.1:p.Gln1581=
XM_011516850.1:c.4443G>A	XP_011515152.1:p.Gln1481=
XM_011516850.2:c.4443G>A	XP_011515152.1:p.Gln1481=
XM_011516851.1:c.1707G>A	XP_011515153.1:p.Gln569=
XM_011516851.2:c.1707G>A	XP_011515153.1:p.Gln569=
XM_011516852.1:c.1707G>A	XP_011515154.1:p.Gln569=
XM_011516852.2:c.1707G>A	XP_011515154.1:p.Gln569=
XM_011516853.1:c.4821G>A	XP_011515155.1:p.Gln1607=
XM_011516853.2:c.4821G>A	XP_011515155.1:p.Gln1607=
XM_011516854.1:c.600G>A	XP_011515156.1:p.Gln200=
XM_011516854.2:c.600G>A	XP_011515156.1:p.Gln200=
XM_017013109.1:c.4626G>A	XP_016868598.1:p.Gln1542=
XM_017013111.1:c.1707G>A	XP_016868600.1:p.Gln569=
XM_017013112.1:c.378G>A	XP_016868601.1:p.Gln126=
XM_024447074.1:c.3606G>A	XP_024302842.1:p.Gln1202=
XR_001745482.2:n.4782G>A
XR_928301.1:n.4924G>A
XR_928302.1:n.4924G>A
XR_928302.2:n.4924G>A
XR_928303.1:n.4924G>A
XR_928304.1:n.4991G>A