Canonical Allele Identifier: CA371792290

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99868423-C-A
• MyVariant Identifiers: chr8:g.100880651C>A (hg19) ; chr8:g.99868423C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868423C>A , CM000670.2:g.99868423C>A	GRCh38
NC_000008.10:g.100880651C>A , CM000670.1:g.100880651C>A	GRCh37
NC_000008.9:g.100949827C>A	NCBI36
NG_007098.2:g.860158C>A , LRG_351:g.860158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*519C>A	ENSP00000507923.1:n.*519C>A
ENST00000682358.1:n.11495C>A
ENST00000683334.1:c.*7107C>A	ENSP00000507369.1:n.*7107C>A
ENST00000357162.7:c.11350C>A MANE Select	ENSP00000349685.2:p.Pro3784Thr
ENST00000358544.7:c.11425C>A MANE Plus Clinical	ENSP00000351346.2:p.Pro3809Thr
ENST00000357162.6:c.11350C>A	ENSP00000349685.2:p.Pro3784Thr
ENST00000358544.6:c.11425C>A	ENSP00000351346.2:p.Pro3809Thr
ENST00000493587.1:n.367C>A
NM_017890.4:c.11425C>A , LRG_351t1:c.11425C>A	NP_060360.3:p.Pro3809Thr
NM_152564.4:c.11350C>A , LRG_351t2:c.11350C>A	NP_689777.3:p.Pro3784Thr
XM_005250800.2:c.11425C>A	XP_005250857.1:p.Pro3809Thr
XM_005250801.3:c.11425C>A	XP_005250858.1:p.Pro3809Thr
XM_011516848.1:c.11422C>A	XP_011515150.1:p.Pro3808Thr
XM_011516849.1:c.11347C>A	XP_011515151.1:p.Pro3783Thr
XM_011516850.1:c.11047C>A	XP_011515152.1:p.Pro3683Thr
XM_011516851.1:c.8311C>A	XP_011515153.1:p.Pro2771Thr
XM_011516852.1:c.8311C>A	XP_011515154.1:p.Pro2771Thr
XM_011516854.1:c.7204C>A	XP_011515156.1:p.Pro2402Thr
XM_005250800.3:c.11425C>A	XP_005250857.1:p.Pro3809Thr
XM_005250801.5:c.11425C>A	XP_005250858.1:p.Pro3809Thr
XM_011516848.2:c.11422C>A	XP_011515150.1:p.Pro3808Thr
XM_011516849.2:c.11347C>A	XP_011515151.1:p.Pro3783Thr
XM_011516850.2:c.11047C>A	XP_011515152.1:p.Pro3683Thr
XM_011516851.2:c.8311C>A	XP_011515153.1:p.Pro2771Thr
XM_011516852.2:c.8311C>A	XP_011515154.1:p.Pro2771Thr
XM_011516854.2:c.7204C>A	XP_011515156.1:p.Pro2402Thr
XM_017013109.1:c.11230C>A	XP_016868598.1:p.Pro3744Thr
XM_017013111.1:c.8311C>A	XP_016868600.1:p.Pro2771Thr
XM_017013112.1:c.6982C>A	XP_016868601.1:p.Pro2328Thr
XM_024447074.1:c.10210C>A	XP_024302842.1:p.Pro3404Thr
NM_017890.5:c.11425C>A MANE Plus Clinical	NP_060360.3:p.Pro3809Thr
NM_152564.5:c.11350C>A MANE Select	NP_689777.3:p.Pro3784Thr