Canonical Allele Identifier: CA371785014

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100847954T>A (hg19) ; chr8:g.99835726T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835726T>A , CM000670.2:g.99835726T>A	GRCh38
NC_000008.10:g.100847954T>A , CM000670.1:g.100847954T>A	GRCh37
NC_000008.9:g.100917130T>A	NCBI36
NG_007098.2:g.827461T>A , LRG_351:g.827461T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10005T>A	ENSP00000507923.1:p.Ser3335Arg
ENST00000682358.1:n.10075T>A
ENST00000683334.1:c.*5687T>A	ENSP00000507369.1:n.*5687T>A
ENST00000357162.7:c.9930T>A MANE Select	ENSP00000349685.2:p.Ser3310Arg
ENST00000358544.7:c.10005T>A MANE Plus Clinical	ENSP00000351346.2:p.Ser3335Arg
ENST00000357162.6:c.9930T>A	ENSP00000349685.2:p.Ser3310Arg
ENST00000358544.6:c.10005T>A	ENSP00000351346.2:p.Ser3335Arg
NM_017890.4:c.10005T>A , LRG_351t1:c.10005T>A	NP_060360.3:p.Ser3335Arg
NM_152564.4:c.9930T>A , LRG_351t2:c.9930T>A	NP_689777.3:p.Ser3310Arg
XM_005250800.2:c.10005T>A	XP_005250857.1:p.Ser3335Arg
XM_005250801.3:c.10005T>A	XP_005250858.1:p.Ser3335Arg
XM_011516848.1:c.10002T>A	XP_011515150.1:p.Ser3334Arg
XM_011516849.1:c.9927T>A	XP_011515151.1:p.Ser3309Arg
XM_011516850.1:c.9627T>A	XP_011515152.1:p.Ser3209Arg
XM_011516851.1:c.6891T>A	XP_011515153.1:p.Ser2297Arg
XM_011516852.1:c.6891T>A	XP_011515154.1:p.Ser2297Arg
XM_011516854.1:c.5784T>A	XP_011515156.1:p.Ser1928Arg
XM_005250800.3:c.10005T>A	XP_005250857.1:p.Ser3335Arg
XM_005250801.5:c.10005T>A	XP_005250858.1:p.Ser3335Arg
XM_011516848.2:c.10002T>A	XP_011515150.1:p.Ser3334Arg
XM_011516849.2:c.9927T>A	XP_011515151.1:p.Ser3309Arg
XM_011516850.2:c.9627T>A	XP_011515152.1:p.Ser3209Arg
XM_011516851.2:c.6891T>A	XP_011515153.1:p.Ser2297Arg
XM_011516852.2:c.6891T>A	XP_011515154.1:p.Ser2297Arg
XM_011516854.2:c.5784T>A	XP_011515156.1:p.Ser1928Arg
XM_017013109.1:c.9810T>A	XP_016868598.1:p.Ser3270Arg
XM_017013111.1:c.6891T>A	XP_016868600.1:p.Ser2297Arg
XM_017013112.1:c.5562T>A	XP_016868601.1:p.Ser1854Arg
XM_024447074.1:c.8790T>A	XP_024302842.1:p.Ser2930Arg
NM_017890.5:c.10005T>A MANE Plus Clinical	NP_060360.3:p.Ser3335Arg
NM_152564.5:c.9930T>A MANE Select	NP_689777.3:p.Ser3310Arg