Canonical Allele Identifier: CA252443
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2824
ClinVar RCV Id: RCV000002958
dbSNP Id: rs120074153

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99784394G>A , CM000670.2:g.99784394G>A GRCh38
NC_000008.10:g.100796622G>A , CM000670.1:g.100796622G>A GRCh37
NC_000008.9:g.100865798G>A NCBI36
NG_007098.2:g.776129G>A , LRG_351:g.776129G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.7934G>A ENSP00000507923.1:p.Gly2645Asp
ENST00000682358.1:n.8004G>A
ENST00000683334.1:c.*3616G>A ENSP00000507369.1:n.*3616G>A
ENST00000357162.7:c.7859G>A MANE Select ENSP00000349685.2:p.Gly2620Asp
ENST00000358544.7:c.7934G>A MANE Plus Clinical ENSP00000351346.2:p.Gly2645Asp
ENST00000357162.6:c.7859G>A ENSP00000349685.2:p.Gly2620Asp
ENST00000358544.6:c.7934G>A ENSP00000351346.2:p.Gly2645Asp
NM_017890.4:c.7934G>A , LRG_351t1:c.7934G>A NP_060360.3:p.Gly2645Asp
NM_152564.4:c.7859G>A , LRG_351t2:c.7859G>A NP_689777.3:p.Gly2620Asp
XM_005250800.2:c.7934G>A XP_005250857.1:p.Gly2645Asp
XM_005250801.3:c.7934G>A XP_005250858.1:p.Gly2645Asp
XM_011516848.1:c.7931G>A XP_011515150.1:p.Gly2644Asp
XM_011516849.1:c.7856G>A XP_011515151.1:p.Gly2619Asp
XM_011516850.1:c.7556G>A XP_011515152.1:p.Gly2519Asp
XM_011516851.1:c.4820G>A XP_011515153.1:p.Gly1607Asp
XM_011516852.1:c.4820G>A XP_011515154.1:p.Gly1607Asp
XM_011516853.1:c.7934G>A XP_011515155.1:p.Gly2645Asp
XM_011516854.1:c.3713G>A XP_011515156.1:p.Gly1238Asp
XM_005250800.3:c.7934G>A XP_005250857.1:p.Gly2645Asp
XM_005250801.5:c.7934G>A XP_005250858.1:p.Gly2645Asp
XM_011516848.2:c.7931G>A XP_011515150.1:p.Gly2644Asp
XM_011516849.2:c.7856G>A XP_011515151.1:p.Gly2619Asp
XM_011516850.2:c.7556G>A XP_011515152.1:p.Gly2519Asp
XM_011516851.2:c.4820G>A XP_011515153.1:p.Gly1607Asp
XM_011516852.2:c.4820G>A XP_011515154.1:p.Gly1607Asp
XM_011516853.2:c.7934G>A XP_011515155.1:p.Gly2645Asp
XM_011516854.2:c.3713G>A XP_011515156.1:p.Gly1238Asp
XM_017013109.1:c.7739G>A XP_016868598.1:p.Gly2580Asp
XM_017013111.1:c.4820G>A XP_016868600.1:p.Gly1607Asp
XM_017013112.1:c.3491G>A XP_016868601.1:p.Gly1164Asp
XM_024447074.1:c.6719G>A XP_024302842.1:p.Gly2240Asp
NM_017890.5:c.7934G>A MANE Plus Clinical NP_060360.3:p.Gly2645Asp
NM_152564.5:c.7859G>A MANE Select NP_689777.3:p.Gly2620Asp