Canonical Allele Identifier: CA16041256
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370526
ClinVar RCV Id: RCV000409592
dbSNP Id: rs1057516558

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99820081C>T , CM000670.2:g.99820081C>T GRCh38
NC_000008.10:g.100832309C>T , CM000670.1:g.100832309C>T GRCh37
NC_000008.9:g.100901485C>T NCBI36
NG_007098.2:g.811816C>T , LRG_351:g.811816C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.9028C>T ENSP00000507923.1:p.Gln3010Ter
ENST00000682358.1:n.9098C>T
ENST00000683334.1:c.*4710C>T ENSP00000507369.1:n.*4710C>T
ENST00000357162.7:c.8953C>T MANE Select ENSP00000349685.2:p.Gln2985Ter
ENST00000358544.7:c.9028C>T MANE Plus Clinical ENSP00000351346.2:p.Gln3010Ter
ENST00000357162.6:c.8953C>T ENSP00000349685.2:p.Gln2985Ter
ENST00000358544.6:c.9028C>T ENSP00000351346.2:p.Gln3010Ter
NM_017890.4:c.9028C>T , LRG_351t1:c.9028C>T NP_060360.3:p.Gln3010Ter
NM_152564.4:c.8953C>T , LRG_351t2:c.8953C>T NP_689777.3:p.Gln2985Ter
XM_005250800.2:c.9028C>T XP_005250857.1:p.Gln3010Ter
XM_005250801.3:c.9028C>T XP_005250858.1:p.Gln3010Ter
XM_011516848.1:c.9025C>T XP_011515150.1:p.Gln3009Ter
XM_011516849.1:c.8950C>T XP_011515151.1:p.Gln2984Ter
XM_011516850.1:c.8650C>T XP_011515152.1:p.Gln2884Ter
XM_011516851.1:c.5914C>T XP_011515153.1:p.Gln1972Ter
XM_011516852.1:c.5914C>T XP_011515154.1:p.Gln1972Ter
XM_011516854.1:c.4807C>T XP_011515156.1:p.Gln1603Ter
XM_005250800.3:c.9028C>T XP_005250857.1:p.Gln3010Ter
XM_005250801.5:c.9028C>T XP_005250858.1:p.Gln3010Ter
XM_011516848.2:c.9025C>T XP_011515150.1:p.Gln3009Ter
XM_011516849.2:c.8950C>T XP_011515151.1:p.Gln2984Ter
XM_011516850.2:c.8650C>T XP_011515152.1:p.Gln2884Ter
XM_011516851.2:c.5914C>T XP_011515153.1:p.Gln1972Ter
XM_011516852.2:c.5914C>T XP_011515154.1:p.Gln1972Ter
XM_011516854.2:c.4807C>T XP_011515156.1:p.Gln1603Ter
XM_017013109.1:c.8833C>T XP_016868598.1:p.Gln2945Ter
XM_017013111.1:c.5914C>T XP_016868600.1:p.Gln1972Ter
XM_017013112.1:c.4585C>T XP_016868601.1:p.Gln1529Ter
XM_024447074.1:c.7813C>T XP_024302842.1:p.Gln2605Ter
NM_017890.5:c.9028C>T MANE Plus Clinical NP_060360.3:p.Gln3010Ter
NM_152564.5:c.8953C>T MANE Select NP_689777.3:p.Gln2985Ter