Canonical Allele Identifier: CA4825072
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 528859
dbSNP Id: rs758028194
gnomAD v3: 8-99859374-C-T
gnomAD v4: 8-99859374-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99859374C>T , CM000670.2:g.99859374C>T GRCh38
NC_000008.10:g.100871602C>T , CM000670.1:g.100871602C>T GRCh37
NC_000008.9:g.100940778C>T NCBI36
NG_007098.2:g.851109C>T , LRG_351:g.851109C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*107C>T ENSP00000507923.1:n.*107C>T
ENST00000682358.1:n.11083C>T
ENST00000683334.1:c.*6695C>T ENSP00000507369.1:n.*6695C>T
ENST00000357162.7:c.10938C>T MANE Select ENSP00000349685.2:p.Val3646=
ENST00000358544.7:c.11013C>T MANE Plus Clinical ENSP00000351346.2:p.Val3671=
ENST00000357162.6:c.10938C>T ENSP00000349685.2:p.Val3646=
ENST00000358544.6:c.11013C>T ENSP00000351346.2:p.Val3671=
NM_017890.4:c.11013C>T , LRG_351t1:c.11013C>T NP_060360.3:p.Val3671=
NM_152564.4:c.10938C>T , LRG_351t2:c.10938C>T NP_689777.3:p.Val3646=
XM_005250800.2:c.11013C>T XP_005250857.1:p.Val3671=
XM_005250801.3:c.11013C>T XP_005250858.1:p.Val3671=
XM_011516848.1:c.11010C>T XP_011515150.1:p.Val3670=
XM_011516849.1:c.10935C>T XP_011515151.1:p.Val3645=
XM_011516850.1:c.10635C>T XP_011515152.1:p.Val3545=
XM_011516851.1:c.7899C>T XP_011515153.1:p.Val2633=
XM_011516852.1:c.7899C>T XP_011515154.1:p.Val2633=
XM_011516854.1:c.6792C>T XP_011515156.1:p.Val2264=
XM_005250800.3:c.11013C>T XP_005250857.1:p.Val3671=
XM_005250801.5:c.11013C>T XP_005250858.1:p.Val3671=
XM_011516848.2:c.11010C>T XP_011515150.1:p.Val3670=
XM_011516849.2:c.10935C>T XP_011515151.1:p.Val3645=
XM_011516850.2:c.10635C>T XP_011515152.1:p.Val3545=
XM_011516851.2:c.7899C>T XP_011515153.1:p.Val2633=
XM_011516852.2:c.7899C>T XP_011515154.1:p.Val2633=
XM_011516854.2:c.6792C>T XP_011515156.1:p.Val2264=
XM_017013109.1:c.10818C>T XP_016868598.1:p.Val3606=
XM_017013111.1:c.7899C>T XP_016868600.1:p.Val2633=
XM_017013112.1:c.6570C>T XP_016868601.1:p.Val2190=
XM_024447074.1:c.9798C>T XP_024302842.1:p.Val3266=
NM_017890.5:c.11013C>T MANE Plus Clinical NP_060360.3:p.Val3671=
NM_152564.5:c.10938C>T MANE Select NP_689777.3:p.Val3646=