Canonical Allele Identifier: CA4824815

Gene: VPS13B

Linked Data

• dbSNP Id: rs764798396
• ExAC: 8:100847886 C / T
• gnomAD v2: 8-100847886-C-T
• gnomAD v3: 8-99835658-C-T
• gnomAD v4: 8-99835658-C-T
• MyVariant Identifiers: chr8:g.100847886C>T (hg19) ; chr8:g.99835658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835658C>T , CM000670.2:g.99835658C>T	GRCh38
NC_000008.10:g.100847886C>T , CM000670.1:g.100847886C>T	GRCh37
NC_000008.9:g.100917062C>T	NCBI36
NG_007098.2:g.827393C>T , LRG_351:g.827393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9937C>T	ENSP00000507923.1:p.Leu3313=
ENST00000682358.1:n.10007C>T
ENST00000683334.1:c.*5619C>T	ENSP00000507369.1:n.*5619C>T
ENST00000357162.7:c.9862C>T MANE Select	ENSP00000349685.2:p.Leu3288=
ENST00000358544.7:c.9937C>T MANE Plus Clinical	ENSP00000351346.2:p.Leu3313=
ENST00000357162.6:c.9862C>T	ENSP00000349685.2:p.Leu3288=
ENST00000358544.6:c.9937C>T	ENSP00000351346.2:p.Leu3313=
NM_017890.4:c.9937C>T , LRG_351t1:c.9937C>T	NP_060360.3:p.Leu3313=
NM_152564.4:c.9862C>T , LRG_351t2:c.9862C>T	NP_689777.3:p.Leu3288=
XM_005250800.2:c.9937C>T	XP_005250857.1:p.Leu3313=
XM_005250801.3:c.9937C>T	XP_005250858.1:p.Leu3313=
XM_011516848.1:c.9934C>T	XP_011515150.1:p.Leu3312=
XM_011516849.1:c.9859C>T	XP_011515151.1:p.Leu3287=
XM_011516850.1:c.9559C>T	XP_011515152.1:p.Leu3187=
XM_011516851.1:c.6823C>T	XP_011515153.1:p.Leu2275=
XM_011516852.1:c.6823C>T	XP_011515154.1:p.Leu2275=
XM_011516854.1:c.5716C>T	XP_011515156.1:p.Leu1906=
XM_005250800.3:c.9937C>T	XP_005250857.1:p.Leu3313=
XM_005250801.5:c.9937C>T	XP_005250858.1:p.Leu3313=
XM_011516848.2:c.9934C>T	XP_011515150.1:p.Leu3312=
XM_011516849.2:c.9859C>T	XP_011515151.1:p.Leu3287=
XM_011516850.2:c.9559C>T	XP_011515152.1:p.Leu3187=
XM_011516851.2:c.6823C>T	XP_011515153.1:p.Leu2275=
XM_011516852.2:c.6823C>T	XP_011515154.1:p.Leu2275=
XM_011516854.2:c.5716C>T	XP_011515156.1:p.Leu1906=
XM_017013109.1:c.9742C>T	XP_016868598.1:p.Leu3248=
XM_017013111.1:c.6823C>T	XP_016868600.1:p.Leu2275=
XM_017013112.1:c.5494C>T	XP_016868601.1:p.Leu1832=
XM_024447074.1:c.8722C>T	XP_024302842.1:p.Leu2908=
NM_017890.5:c.9937C>T MANE Plus Clinical	NP_060360.3:p.Leu3313=
NM_152564.5:c.9862C>T MANE Select	NP_689777.3:p.Leu3288=