Canonical Allele Identifier: CA16041243
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370170
ClinVar RCV Id: RCV000412237
dbSNP Id: rs1057516287
COSMIC: COSM4830216 COSM4830217
MyVariant Identifiers: chr8:g.100712049C>T (hg19) chr8:g.99699821C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99699821C>T , CM000670.2:g.99699821C>T GRCh38
NC_000008.10:g.100712049C>T , CM000670.1:g.100712049C>T GRCh37
NC_000008.9:g.100781225C>T NCBI36
NG_007098.2:g.691556C>T , LRG_351:g.691556C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.6418C>T ENSP00000507923.1:p.Gln2140Ter
ENST00000682358.1:n.6488C>T
ENST00000683334.1:c.*2100C>T ENSP00000507369.1:n.*2100C>T
ENST00000357162.7:c.6343C>T MANE Select ENSP00000349685.2:p.Gln2115Ter
ENST00000358544.7:c.6418C>T MANE Plus Clinical ENSP00000351346.2:p.Gln2140Ter
ENST00000357162.6:c.6343C>T ENSP00000349685.2:p.Gln2115Ter
ENST00000358544.6:c.6418C>T ENSP00000351346.2:p.Gln2140Ter
NM_017890.4:c.6418C>T , LRG_351t1:c.6418C>T NP_060360.3:p.Gln2140Ter
NM_152564.4:c.6343C>T , LRG_351t2:c.6343C>T NP_689777.3:p.Gln2115Ter
XM_005250800.2:c.6418C>T XP_005250857.1:p.Gln2140Ter
XM_005250801.3:c.6418C>T XP_005250858.1:p.Gln2140Ter
XM_011516848.1:c.6415C>T XP_011515150.1:p.Gln2139Ter
XM_011516849.1:c.6340C>T XP_011515151.1:p.Gln2114Ter
XM_011516850.1:c.6040C>T XP_011515152.1:p.Gln2014Ter
XM_011516851.1:c.3304C>T XP_011515153.1:p.Gln1102Ter
XM_011516852.1:c.3304C>T XP_011515154.1:p.Gln1102Ter
XM_011516853.1:c.6418C>T XP_011515155.1:p.Gln2140Ter
XM_011516854.1:c.2197C>T XP_011515156.1:p.Gln733Ter
XM_005250800.3:c.6418C>T XP_005250857.1:p.Gln2140Ter
XM_005250801.5:c.6418C>T XP_005250858.1:p.Gln2140Ter
XM_011516848.2:c.6415C>T XP_011515150.1:p.Gln2139Ter
XM_011516849.2:c.6340C>T XP_011515151.1:p.Gln2114Ter
XM_011516850.2:c.6040C>T XP_011515152.1:p.Gln2014Ter
XM_011516851.2:c.3304C>T XP_011515153.1:p.Gln1102Ter
XM_011516852.2:c.3304C>T XP_011515154.1:p.Gln1102Ter
XM_011516853.2:c.6418C>T XP_011515155.1:p.Gln2140Ter
XM_011516854.2:c.2197C>T XP_011515156.1:p.Gln733Ter
XM_017013109.1:c.6223C>T XP_016868598.1:p.Gln2075Ter
XM_017013111.1:c.3304C>T XP_016868600.1:p.Gln1102Ter
XM_017013112.1:c.1975C>T XP_016868601.1:p.Gln659Ter
XM_024447074.1:c.5203C>T XP_024302842.1:p.Gln1735Ter
NM_017890.5:c.6418C>T MANE Plus Clinical NP_060360.3:p.Gln2140Ter
NM_152564.5:c.6343C>T MANE Select NP_689777.3:p.Gln2115Ter
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