Canonical Allele Identifier: CA371782819

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99835302-G-A
• MyVariant Identifiers: chr8:g.100847530G>A (hg19) ; chr8:g.99835302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835302G>A , CM000670.2:g.99835302G>A	GRCh38
NC_000008.10:g.100847530G>A , CM000670.1:g.100847530G>A	GRCh37
NC_000008.9:g.100916706G>A	NCBI36
NG_007098.2:g.827037G>A , LRG_351:g.827037G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.9795G>A	ENSP00000507923.1:p.Met3265Ile
ENST00000682358.1:n.9865G>A
ENST00000683334.1:c.*5477G>A	ENSP00000507369.1:n.*5477G>A
ENST00000357162.7:c.9720G>A MANE Select	ENSP00000349685.2:p.Met3240Ile
ENST00000358544.7:c.9795G>A MANE Plus Clinical	ENSP00000351346.2:p.Met3265Ile
ENST00000357162.6:c.9720G>A	ENSP00000349685.2:p.Met3240Ile
ENST00000358544.6:c.9795G>A	ENSP00000351346.2:p.Met3265Ile
NM_017890.4:c.9795G>A , LRG_351t1:c.9795G>A	NP_060360.3:p.Met3265Ile
NM_152564.4:c.9720G>A , LRG_351t2:c.9720G>A	NP_689777.3:p.Met3240Ile
XM_005250800.2:c.9795G>A	XP_005250857.1:p.Met3265Ile
XM_005250801.3:c.9795G>A	XP_005250858.1:p.Met3265Ile
XM_011516848.1:c.9792G>A	XP_011515150.1:p.Met3264Ile
XM_011516849.1:c.9717G>A	XP_011515151.1:p.Met3239Ile
XM_011516850.1:c.9417G>A	XP_011515152.1:p.Met3139Ile
XM_011516851.1:c.6681G>A	XP_011515153.1:p.Met2227Ile
XM_011516852.1:c.6681G>A	XP_011515154.1:p.Met2227Ile
XM_011516854.1:c.5574G>A	XP_011515156.1:p.Met1858Ile
XM_005250800.3:c.9795G>A	XP_005250857.1:p.Met3265Ile
XM_005250801.5:c.9795G>A	XP_005250858.1:p.Met3265Ile
XM_011516848.2:c.9792G>A	XP_011515150.1:p.Met3264Ile
XM_011516849.2:c.9717G>A	XP_011515151.1:p.Met3239Ile
XM_011516850.2:c.9417G>A	XP_011515152.1:p.Met3139Ile
XM_011516851.2:c.6681G>A	XP_011515153.1:p.Met2227Ile
XM_011516852.2:c.6681G>A	XP_011515154.1:p.Met2227Ile
XM_011516854.2:c.5574G>A	XP_011515156.1:p.Met1858Ile
XM_017013109.1:c.9600G>A	XP_016868598.1:p.Met3200Ile
XM_017013111.1:c.6681G>A	XP_016868600.1:p.Met2227Ile
XM_017013112.1:c.5352G>A	XP_016868601.1:p.Met1784Ile
XM_024447074.1:c.8580G>A	XP_024302842.1:p.Met2860Ile
NM_017890.5:c.9795G>A MANE Plus Clinical	NP_060360.3:p.Met3265Ile
NM_152564.5:c.9720G>A MANE Select	NP_689777.3:p.Met3240Ile