Canonical Allele Identifier: CA462341101

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99835738-G-A
• MyVariant Identifiers: chr8:g.100847966G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835738G>A , CM000670.2:g.99835738G>A	GRCh38
NC_000008.10:g.100847966G>A , CM000670.1:g.100847966G>A	GRCh37
NC_000008.9:g.100917142G>A	NCBI36
NG_007098.2:g.827473G>A , LRG_351:g.827473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10017G>A	ENSP00000507923.1:p.Gln3339=
ENST00000682358.1:n.10087G>A
ENST00000683334.1:c.*5699G>A	ENSP00000507369.1:n.*5699G>A
ENST00000357162.7:c.9942G>A MANE Select	ENSP00000349685.2:p.Gln3314=
ENST00000358544.7:c.10017G>A MANE Plus Clinical	ENSP00000351346.2:p.Gln3339=
ENST00000357162.6:c.9942G>A	ENSP00000349685.2:p.Gln3314=
ENST00000358544.6:c.10017G>A	ENSP00000351346.2:p.Gln3339=
NM_017890.4:c.10017G>A , LRG_351t1:c.10017G>A	NP_060360.3:p.Gln3339=
NM_152564.4:c.9942G>A , LRG_351t2:c.9942G>A	NP_689777.3:p.Gln3314=
XM_005250800.2:c.10017G>A	XP_005250857.1:p.Gln3339=
XM_005250801.3:c.10017G>A	XP_005250858.1:p.Gln3339=
XM_011516848.1:c.10014G>A	XP_011515150.1:p.Gln3338=
XM_011516849.1:c.9939G>A	XP_011515151.1:p.Gln3313=
XM_011516850.1:c.9639G>A	XP_011515152.1:p.Gln3213=
XM_011516851.1:c.6903G>A	XP_011515153.1:p.Gln2301=
XM_011516852.1:c.6903G>A	XP_011515154.1:p.Gln2301=
XM_011516854.1:c.5796G>A	XP_011515156.1:p.Gln1932=
XM_005250800.3:c.10017G>A	XP_005250857.1:p.Gln3339=
XM_005250801.5:c.10017G>A	XP_005250858.1:p.Gln3339=
XM_011516848.2:c.10014G>A	XP_011515150.1:p.Gln3338=
XM_011516849.2:c.9939G>A	XP_011515151.1:p.Gln3313=
XM_011516850.2:c.9639G>A	XP_011515152.1:p.Gln3213=
XM_011516851.2:c.6903G>A	XP_011515153.1:p.Gln2301=
XM_011516852.2:c.6903G>A	XP_011515154.1:p.Gln2301=
XM_011516854.2:c.5796G>A	XP_011515156.1:p.Gln1932=
XM_017013109.1:c.9822G>A	XP_016868598.1:p.Gln3274=
XM_017013111.1:c.6903G>A	XP_016868600.1:p.Gln2301=
XM_017013112.1:c.5574G>A	XP_016868601.1:p.Gln1858=
XM_024447074.1:c.8802G>A	XP_024302842.1:p.Gln2934=
NM_017890.5:c.10017G>A MANE Plus Clinical	NP_060360.3:p.Gln3339=
NM_152564.5:c.9942G>A MANE Select	NP_689777.3:p.Gln3314=