Canonical Allele Identifier: CA371790709

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861917-G-A
• MyVariant Identifiers: chr8:g.100874145G>A (hg19) ; chr8:g.99861917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861917G>A , CM000670.2:g.99861917G>A	GRCh38
NC_000008.10:g.100874145G>A , CM000670.1:g.100874145G>A	GRCh37
NC_000008.9:g.100943321G>A	NCBI36
NG_007098.2:g.853652G>A , LRG_351:g.853652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*355G>A	ENSP00000507923.1:n.*355G>A
ENST00000682358.1:n.11331G>A
ENST00000683334.1:c.*6943G>A	ENSP00000507369.1:n.*6943G>A
ENST00000357162.7:c.11186G>A MANE Select	ENSP00000349685.2:p.Gly3729Asp
ENST00000358544.7:c.11261G>A MANE Plus Clinical	ENSP00000351346.2:p.Gly3754Asp
ENST00000357162.6:c.11186G>A	ENSP00000349685.2:p.Gly3729Asp
ENST00000358544.6:c.11261G>A	ENSP00000351346.2:p.Gly3754Asp
NM_017890.4:c.11261G>A , LRG_351t1:c.11261G>A	NP_060360.3:p.Gly3754Asp
NM_152564.4:c.11186G>A , LRG_351t2:c.11186G>A	NP_689777.3:p.Gly3729Asp
XM_005250800.2:c.11261G>A	XP_005250857.1:p.Gly3754Asp
XM_005250801.3:c.11261G>A	XP_005250858.1:p.Gly3754Asp
XM_011516848.1:c.11258G>A	XP_011515150.1:p.Gly3753Asp
XM_011516849.1:c.11183G>A	XP_011515151.1:p.Gly3728Asp
XM_011516850.1:c.10883G>A	XP_011515152.1:p.Gly3628Asp
XM_011516851.1:c.8147G>A	XP_011515153.1:p.Gly2716Asp
XM_011516852.1:c.8147G>A	XP_011515154.1:p.Gly2716Asp
XM_011516854.1:c.7040G>A	XP_011515156.1:p.Gly2347Asp
XM_005250800.3:c.11261G>A	XP_005250857.1:p.Gly3754Asp
XM_005250801.5:c.11261G>A	XP_005250858.1:p.Gly3754Asp
XM_011516848.2:c.11258G>A	XP_011515150.1:p.Gly3753Asp
XM_011516849.2:c.11183G>A	XP_011515151.1:p.Gly3728Asp
XM_011516850.2:c.10883G>A	XP_011515152.1:p.Gly3628Asp
XM_011516851.2:c.8147G>A	XP_011515153.1:p.Gly2716Asp
XM_011516852.2:c.8147G>A	XP_011515154.1:p.Gly2716Asp
XM_011516854.2:c.7040G>A	XP_011515156.1:p.Gly2347Asp
XM_017013109.1:c.11066G>A	XP_016868598.1:p.Gly3689Asp
XM_017013111.1:c.8147G>A	XP_016868600.1:p.Gly2716Asp
XM_017013112.1:c.6818G>A	XP_016868601.1:p.Gly2273Asp
XM_024447074.1:c.10046G>A	XP_024302842.1:p.Gly3349Asp
NM_017890.5:c.11261G>A MANE Plus Clinical	NP_060360.3:p.Gly3754Asp
NM_152564.5:c.11186G>A MANE Select	NP_689777.3:p.Gly3729Asp