Canonical Allele Identifier: CA4824191
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2862450
ClinVar RCV Id: RCV003605449
dbSNP Id: rs200065297
gnomAD v3: 8-99776833-C-T
gnomAD v4: 8-99776833-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99776833C>T , CM000670.2:g.99776833C>T GRCh38
NC_000008.10:g.100789061C>T , CM000670.1:g.100789061C>T GRCh37
NC_000008.9:g.100858237C>T NCBI36
NG_007098.2:g.768568C>T , LRG_351:g.768568C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.7381C>T ENSP00000507923.1:p.Leu2461=
ENST00000682358.1:n.7451C>T
ENST00000683334.1:c.*3063C>T ENSP00000507369.1:n.*3063C>T
ENST00000357162.7:c.7306C>T MANE Select ENSP00000349685.2:p.Leu2436=
ENST00000358544.7:c.7381C>T MANE Plus Clinical ENSP00000351346.2:p.Leu2461=
ENST00000357162.6:c.7306C>T ENSP00000349685.2:p.Leu2436=
ENST00000358544.6:c.7381C>T ENSP00000351346.2:p.Leu2461=
ENST00000518569.1:n.378-1849C>T
NM_017890.4:c.7381C>T , LRG_351t1:c.7381C>T NP_060360.3:p.Leu2461=
NM_152564.4:c.7306C>T , LRG_351t2:c.7306C>T NP_689777.3:p.Leu2436=
XM_005250800.2:c.7381C>T XP_005250857.1:p.Leu2461=
XM_005250801.3:c.7381C>T XP_005250858.1:p.Leu2461=
XM_011516848.1:c.7378C>T XP_011515150.1:p.Leu2460=
XM_011516849.1:c.7303C>T XP_011515151.1:p.Leu2435=
XM_011516850.1:c.7003C>T XP_011515152.1:p.Leu2335=
XM_011516851.1:c.4267C>T XP_011515153.1:p.Leu1423=
XM_011516852.1:c.4267C>T XP_011515154.1:p.Leu1423=
XM_011516853.1:c.7381C>T XP_011515155.1:p.Leu2461=
XM_011516854.1:c.3160C>T XP_011515156.1:p.Leu1054=
XR_928446.1:n.1830+5645G>A
XM_005250800.3:c.7381C>T XP_005250857.1:p.Leu2461=
XM_005250801.5:c.7381C>T XP_005250858.1:p.Leu2461=
XM_011516848.2:c.7378C>T XP_011515150.1:p.Leu2460=
XM_011516849.2:c.7303C>T XP_011515151.1:p.Leu2435=
XM_011516850.2:c.7003C>T XP_011515152.1:p.Leu2335=
XM_011516851.2:c.4267C>T XP_011515153.1:p.Leu1423=
XM_011516852.2:c.4267C>T XP_011515154.1:p.Leu1423=
XM_011516853.2:c.7381C>T XP_011515155.1:p.Leu2461=
XM_011516854.2:c.3160C>T XP_011515156.1:p.Leu1054=
XM_017013109.1:c.7186C>T XP_016868598.1:p.Leu2396=
XM_017013111.1:c.4267C>T XP_016868600.1:p.Leu1423=
XM_017013112.1:c.2938C>T XP_016868601.1:p.Leu980=
XM_024447074.1:c.6166C>T XP_024302842.1:p.Leu2056=
NM_017890.5:c.7381C>T MANE Plus Clinical NP_060360.3:p.Leu2461=
NM_152564.5:c.7306C>T MANE Select NP_689777.3:p.Leu2436=