Canonical Allele Identifier: CA371875647

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1008752
• ClinVar RCV Id: RCV001306142
• dbSNP Id: rs1811763988
• gnomAD v3: 8-99776828-C-T
• gnomAD v4: 8-99776828-C-T
• MyVariant Identifiers: chr8:g.100789056C>T (hg19) ; chr8:g.99776828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776828C>T , CM000670.2:g.99776828C>T	GRCh38
NC_000008.10:g.100789056C>T , CM000670.1:g.100789056C>T	GRCh37
NC_000008.9:g.100858232C>T	NCBI36
NG_007098.2:g.768563C>T , LRG_351:g.768563C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7376C>T	ENSP00000507923.1:p.Thr2459Ile
ENST00000682358.1:n.7446C>T
ENST00000683334.1:c.*3058C>T	ENSP00000507369.1:n.*3058C>T
ENST00000357162.7:c.7301C>T MANE Select	ENSP00000349685.2:p.Thr2434Ile
ENST00000358544.7:c.7376C>T MANE Plus Clinical	ENSP00000351346.2:p.Thr2459Ile
ENST00000357162.6:c.7301C>T	ENSP00000349685.2:p.Thr2434Ile
ENST00000358544.6:c.7376C>T	ENSP00000351346.2:p.Thr2459Ile
ENST00000518569.1:n.378-1854C>T
NM_017890.4:c.7376C>T , LRG_351t1:c.7376C>T	NP_060360.3:p.Thr2459Ile
NM_152564.4:c.7301C>T , LRG_351t2:c.7301C>T	NP_689777.3:p.Thr2434Ile
XM_005250800.2:c.7376C>T	XP_005250857.1:p.Thr2459Ile
XM_005250801.3:c.7376C>T	XP_005250858.1:p.Thr2459Ile
XM_011516848.1:c.7373C>T	XP_011515150.1:p.Thr2458Ile
XM_011516849.1:c.7298C>T	XP_011515151.1:p.Thr2433Ile
XM_011516850.1:c.6998C>T	XP_011515152.1:p.Thr2333Ile
XM_011516851.1:c.4262C>T	XP_011515153.1:p.Thr1421Ile
XM_011516852.1:c.4262C>T	XP_011515154.1:p.Thr1421Ile
XM_011516853.1:c.7376C>T	XP_011515155.1:p.Thr2459Ile
XM_011516854.1:c.3155C>T	XP_011515156.1:p.Thr1052Ile
XR_928446.1:n.1830+5650G>A
XM_005250800.3:c.7376C>T	XP_005250857.1:p.Thr2459Ile
XM_005250801.5:c.7376C>T	XP_005250858.1:p.Thr2459Ile
XM_011516848.2:c.7373C>T	XP_011515150.1:p.Thr2458Ile
XM_011516849.2:c.7298C>T	XP_011515151.1:p.Thr2433Ile
XM_011516850.2:c.6998C>T	XP_011515152.1:p.Thr2333Ile
XM_011516851.2:c.4262C>T	XP_011515153.1:p.Thr1421Ile
XM_011516852.2:c.4262C>T	XP_011515154.1:p.Thr1421Ile
XM_011516853.2:c.7376C>T	XP_011515155.1:p.Thr2459Ile
XM_011516854.2:c.3155C>T	XP_011515156.1:p.Thr1052Ile
XM_017013109.1:c.7181C>T	XP_016868598.1:p.Thr2394Ile
XM_017013111.1:c.4262C>T	XP_016868600.1:p.Thr1421Ile
XM_017013112.1:c.2933C>T	XP_016868601.1:p.Thr978Ile
XM_024447074.1:c.6161C>T	XP_024302842.1:p.Thr2054Ile
NM_017890.5:c.7376C>T MANE Plus Clinical	NP_060360.3:p.Thr2459Ile
NM_152564.5:c.7301C>T MANE Select	NP_689777.3:p.Thr2434Ile