Canonical Allele Identifier: CA16041241
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370226
ClinVar RCV Id: RCV000411092
dbSNP Id: rs1057516331
MyVariant Identifiers: chr8:g.100712005G>A (hg19) chr8:g.99699777G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99699777G>A , CM000670.2:g.99699777G>A GRCh38
NC_000008.10:g.100712005G>A , CM000670.1:g.100712005G>A GRCh37
NC_000008.9:g.100781181G>A NCBI36
NG_007098.2:g.691512G>A , LRG_351:g.691512G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.6374G>A ENSP00000507923.1:p.Trp2125Ter
ENST00000682358.1:n.6444G>A
ENST00000683334.1:c.*2056G>A ENSP00000507369.1:n.*2056G>A
ENST00000357162.7:c.6299G>A MANE Select ENSP00000349685.2:p.Trp2100Ter
ENST00000358544.7:c.6374G>A MANE Plus Clinical ENSP00000351346.2:p.Trp2125Ter
ENST00000357162.6:c.6299G>A ENSP00000349685.2:p.Trp2100Ter
ENST00000358544.6:c.6374G>A ENSP00000351346.2:p.Trp2125Ter
NM_017890.4:c.6374G>A , LRG_351t1:c.6374G>A NP_060360.3:p.Trp2125Ter
NM_152564.4:c.6299G>A , LRG_351t2:c.6299G>A NP_689777.3:p.Trp2100Ter
XM_005250800.2:c.6374G>A XP_005250857.1:p.Trp2125Ter
XM_005250801.3:c.6374G>A XP_005250858.1:p.Trp2125Ter
XM_011516848.1:c.6371G>A XP_011515150.1:p.Trp2124Ter
XM_011516849.1:c.6296G>A XP_011515151.1:p.Trp2099Ter
XM_011516850.1:c.5996G>A XP_011515152.1:p.Trp1999Ter
XM_011516851.1:c.3260G>A XP_011515153.1:p.Trp1087Ter
XM_011516852.1:c.3260G>A XP_011515154.1:p.Trp1087Ter
XM_011516853.1:c.6374G>A XP_011515155.1:p.Trp2125Ter
XM_011516854.1:c.2153G>A XP_011515156.1:p.Trp718Ter
XM_005250800.3:c.6374G>A XP_005250857.1:p.Trp2125Ter
XM_005250801.5:c.6374G>A XP_005250858.1:p.Trp2125Ter
XM_011516848.2:c.6371G>A XP_011515150.1:p.Trp2124Ter
XM_011516849.2:c.6296G>A XP_011515151.1:p.Trp2099Ter
XM_011516850.2:c.5996G>A XP_011515152.1:p.Trp1999Ter
XM_011516851.2:c.3260G>A XP_011515153.1:p.Trp1087Ter
XM_011516852.2:c.3260G>A XP_011515154.1:p.Trp1087Ter
XM_011516853.2:c.6374G>A XP_011515155.1:p.Trp2125Ter
XM_011516854.2:c.2153G>A XP_011515156.1:p.Trp718Ter
XM_017013109.1:c.6179G>A XP_016868598.1:p.Trp2060Ter
XM_017013111.1:c.3260G>A XP_016868600.1:p.Trp1087Ter
XM_017013112.1:c.1931G>A XP_016868601.1:p.Trp644Ter
XM_024447074.1:c.5159G>A XP_024302842.1:p.Trp1720Ter
NM_017890.5:c.6374G>A MANE Plus Clinical NP_060360.3:p.Trp2125Ter
NM_152564.5:c.6299G>A MANE Select NP_689777.3:p.Trp2100Ter
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