Canonical Allele Identifier: CA252447
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2825
ClinVar RCV Id: RCV000002959
dbSNP Id: rs120074154

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99854202C>T , CM000670.2:g.99854202C>T GRCh38
NC_000008.10:g.100866430C>T , CM000670.1:g.100866430C>T GRCh37
NC_000008.9:g.100935606C>T NCBI36
NG_007098.2:g.845937C>T , LRG_351:g.845937C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.10888C>T ENSP00000507923.1:p.Gln3630Ter
ENST00000682358.1:n.10958C>T
ENST00000683334.1:c.*6570C>T ENSP00000507369.1:n.*6570C>T
ENST00000357162.7:c.10813C>T MANE Select ENSP00000349685.2:p.Gln3605Ter
ENST00000358544.7:c.10888C>T MANE Plus Clinical ENSP00000351346.2:p.Gln3630Ter
ENST00000357162.6:c.10813C>T ENSP00000349685.2:p.Gln3605Ter
ENST00000358544.6:c.10888C>T ENSP00000351346.2:p.Gln3630Ter
NM_017890.4:c.10888C>T , LRG_351t1:c.10888C>T NP_060360.3:p.Gln3630Ter
NM_152564.4:c.10813C>T , LRG_351t2:c.10813C>T NP_689777.3:p.Gln3605Ter
XM_005250800.2:c.10888C>T XP_005250857.1:p.Gln3630Ter
XM_005250801.3:c.10888C>T XP_005250858.1:p.Gln3630Ter
XM_011516848.1:c.10885C>T XP_011515150.1:p.Gln3629Ter
XM_011516849.1:c.10810C>T XP_011515151.1:p.Gln3604Ter
XM_011516850.1:c.10510C>T XP_011515152.1:p.Gln3504Ter
XM_011516851.1:c.7774C>T XP_011515153.1:p.Gln2592Ter
XM_011516852.1:c.7774C>T XP_011515154.1:p.Gln2592Ter
XM_011516854.1:c.6667C>T XP_011515156.1:p.Gln2223Ter
XM_005250800.3:c.10888C>T XP_005250857.1:p.Gln3630Ter
XM_005250801.5:c.10888C>T XP_005250858.1:p.Gln3630Ter
XM_011516848.2:c.10885C>T XP_011515150.1:p.Gln3629Ter
XM_011516849.2:c.10810C>T XP_011515151.1:p.Gln3604Ter
XM_011516850.2:c.10510C>T XP_011515152.1:p.Gln3504Ter
XM_011516851.2:c.7774C>T XP_011515153.1:p.Gln2592Ter
XM_011516852.2:c.7774C>T XP_011515154.1:p.Gln2592Ter
XM_011516854.2:c.6667C>T XP_011515156.1:p.Gln2223Ter
XM_017013109.1:c.10693C>T XP_016868598.1:p.Gln3565Ter
XM_017013111.1:c.7774C>T XP_016868600.1:p.Gln2592Ter
XM_017013112.1:c.6445C>T XP_016868601.1:p.Gln2149Ter
XM_024447074.1:c.9673C>T XP_024302842.1:p.Gln3225Ter
NM_017890.5:c.10888C>T MANE Plus Clinical NP_060360.3:p.Gln3630Ter
NM_152564.5:c.10813C>T MANE Select NP_689777.3:p.Gln3605Ter