Canonical Allele Identifier: CA371868758

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99556452G>A , CM000670.2:g.99556452G>A	GRCh38
NC_000008.10:g.100568680G>A , CM000670.1:g.100568680G>A	GRCh37
NC_000008.9:g.100637856G>A	NCBI36
NG_007098.2:g.548187G>A , LRG_351:g.548187G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.4748G>A MANE Select	NP_689777.3:p.Arg1583Lys
ENST00000357162.7:c.4748G>A MANE Select	ENSP00000349685.2:p.Arg1583Lys
NM_017890.5:c.4823G>A MANE Plus Clinical	NP_060360.3:p.Arg1608Lys
ENST00000358544.7:c.4823G>A MANE Plus Clinical	ENSP00000351346.2:p.Arg1608Lys
NM_017890.4:c.4823G>A , LRG_351t1:c.4823G>A	NP_060360.3:p.Arg1608Lys
NM_152564.4:c.4748G>A , LRG_351t2:c.4748G>A	NP_689777.3:p.Arg1583Lys
ENST00000357162.6:c.4748G>A	ENSP00000349685.2:p.Arg1583Lys
ENST00000358544.6:c.4823G>A	ENSP00000351346.2:p.Arg1608Lys
ENST00000496144.5:c.*606G>A	ENSP00000430900.1:n.*606G>A
ENST00000521559.1:c.113-19206G>A
ENST00000682153.1:c.4823G>A	ENSP00000507923.1:p.Arg1608Lys
ENST00000682358.1:n.4893G>A
ENST00000683334.1:c.*505G>A	ENSP00000507369.1:n.*505G>A
XM_005250800.2:c.4823G>A	XP_005250857.1:p.Arg1608Lys
XM_005250800.3:c.4823G>A	XP_005250857.1:p.Arg1608Lys
XM_005250801.3:c.4823G>A	XP_005250858.1:p.Arg1608Lys
XM_005250801.5:c.4823G>A	XP_005250858.1:p.Arg1608Lys
XM_006716510.2:c.4823G>A	XP_006716573.1:p.Arg1608Lys
XM_006716510.3:c.4823G>A	XP_006716573.1:p.Arg1608Lys
XM_011516848.1:c.4820G>A	XP_011515150.1:p.Arg1607Lys
XM_011516848.2:c.4820G>A	XP_011515150.1:p.Arg1607Lys
XM_011516849.1:c.4745G>A	XP_011515151.1:p.Arg1582Lys
XM_011516849.2:c.4745G>A	XP_011515151.1:p.Arg1582Lys
XM_011516850.1:c.4445G>A	XP_011515152.1:p.Arg1482Lys
XM_011516850.2:c.4445G>A	XP_011515152.1:p.Arg1482Lys
XM_011516851.1:c.1709G>A	XP_011515153.1:p.Arg570Lys
XM_011516851.2:c.1709G>A	XP_011515153.1:p.Arg570Lys
XM_011516852.1:c.1709G>A	XP_011515154.1:p.Arg570Lys
XM_011516852.2:c.1709G>A	XP_011515154.1:p.Arg570Lys
XM_011516853.1:c.4823G>A	XP_011515155.1:p.Arg1608Lys
XM_011516853.2:c.4823G>A	XP_011515155.1:p.Arg1608Lys
XM_011516854.1:c.602G>A	XP_011515156.1:p.Arg201Lys
XM_011516854.2:c.602G>A	XP_011515156.1:p.Arg201Lys
XM_017013109.1:c.4628G>A	XP_016868598.1:p.Arg1543Lys
XM_017013111.1:c.1709G>A	XP_016868600.1:p.Arg570Lys
XM_017013112.1:c.380G>A	XP_016868601.1:p.Arg127Lys
XM_024447074.1:c.3608G>A	XP_024302842.1:p.Arg1203Lys
XR_001745482.2:n.4784G>A
XR_928301.1:n.4926G>A
XR_928302.1:n.4926G>A
XR_928302.2:n.4926G>A
XR_928303.1:n.4926G>A
XR_928304.1:n.4993G>A