Canonical Allele Identifier: CA462464334

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2767613
• ClinVar RCV Id: RCV003499322
• gnomAD v4: 8-99642086-C-T
• MyVariant Identifiers: chr8:g.100654314C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99642086C>T , CM000670.2:g.99642086C>T	GRCh38
NC_000008.10:g.100654314C>T , CM000670.1:g.100654314C>T	GRCh37
NC_000008.9:g.100723490C>T	NCBI36
NG_007098.2:g.633821C>T , LRG_351:g.633821C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.5571C>T	ENSP00000507923.1:p.Ser1857=
ENST00000682358.1:n.5641C>T
ENST00000683334.1:c.*1253C>T	ENSP00000507369.1:n.*1253C>T
ENST00000357162.7:c.5496C>T MANE Select	ENSP00000349685.2:p.Ser1832=
ENST00000358544.7:c.5571C>T MANE Plus Clinical	ENSP00000351346.2:p.Ser1857=
ENST00000357162.6:c.5496C>T	ENSP00000349685.2:p.Ser1832=
ENST00000358544.6:c.5571C>T	ENSP00000351346.2:p.Ser1857=
NM_017890.4:c.5571C>T , LRG_351t1:c.5571C>T	NP_060360.3:p.Ser1857=
NM_152564.4:c.5496C>T , LRG_351t2:c.5496C>T	NP_689777.3:p.Ser1832=
XM_005250800.2:c.5571C>T	XP_005250857.1:p.Ser1857=
XM_005250801.3:c.5571C>T	XP_005250858.1:p.Ser1857=
XM_011516848.1:c.5568C>T	XP_011515150.1:p.Ser1856=
XM_011516849.1:c.5493C>T	XP_011515151.1:p.Ser1831=
XM_011516850.1:c.5193C>T	XP_011515152.1:p.Ser1731=
XM_011516851.1:c.2457C>T	XP_011515153.1:p.Ser819=
XM_011516852.1:c.2457C>T	XP_011515154.1:p.Ser819=
XM_011516853.1:c.5571C>T	XP_011515155.1:p.Ser1857=
XM_011516854.1:c.1350C>T	XP_011515156.1:p.Ser450=
XM_005250800.3:c.5571C>T	XP_005250857.1:p.Ser1857=
XM_005250801.5:c.5571C>T	XP_005250858.1:p.Ser1857=
XM_011516848.2:c.5568C>T	XP_011515150.1:p.Ser1856=
XM_011516849.2:c.5493C>T	XP_011515151.1:p.Ser1831=
XM_011516850.2:c.5193C>T	XP_011515152.1:p.Ser1731=
XM_011516851.2:c.2457C>T	XP_011515153.1:p.Ser819=
XM_011516852.2:c.2457C>T	XP_011515154.1:p.Ser819=
XM_011516853.2:c.5571C>T	XP_011515155.1:p.Ser1857=
XM_011516854.2:c.1350C>T	XP_011515156.1:p.Ser450=
XM_017013109.1:c.5376C>T	XP_016868598.1:p.Ser1792=
XM_017013111.1:c.2457C>T	XP_016868600.1:p.Ser819=
XM_017013112.1:c.1128C>T	XP_016868601.1:p.Ser376=
XM_024447074.1:c.4356C>T	XP_024302842.1:p.Ser1452=
XR_001745482.2:n.5532C>T
NM_017890.5:c.5571C>T MANE Plus Clinical	NP_060360.3:p.Ser1857=
NM_152564.5:c.5496C>T MANE Select	NP_689777.3:p.Ser1832=