Canonical Allele Identifier: CA4825153
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 655502
ClinVar RCV Id: RCV000811695
dbSNP Id: rs773324603
gnomAD v3: 8-99861877-C-T
gnomAD v4: 8-99861877-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861877C>T , CM000670.2:g.99861877C>T GRCh38
NC_000008.10:g.100874105C>T , CM000670.1:g.100874105C>T GRCh37
NC_000008.9:g.100943281C>T NCBI36
NG_007098.2:g.853612C>T , LRG_351:g.853612C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*315C>T ENSP00000507923.1:n.*315C>T
ENST00000682358.1:n.11291C>T
ENST00000683334.1:c.*6903C>T ENSP00000507369.1:n.*6903C>T
ENST00000357162.7:c.11146C>T MANE Select ENSP00000349685.2:p.Arg3716Trp
ENST00000358544.7:c.11221C>T MANE Plus Clinical ENSP00000351346.2:p.Arg3741Trp
ENST00000357162.6:c.11146C>T ENSP00000349685.2:p.Arg3716Trp
ENST00000358544.6:c.11221C>T ENSP00000351346.2:p.Arg3741Trp
NM_017890.4:c.11221C>T , LRG_351t1:c.11221C>T NP_060360.3:p.Arg3741Trp
NM_152564.4:c.11146C>T , LRG_351t2:c.11146C>T NP_689777.3:p.Arg3716Trp
XM_005250800.2:c.11221C>T XP_005250857.1:p.Arg3741Trp
XM_005250801.3:c.11221C>T XP_005250858.1:p.Arg3741Trp
XM_011516848.1:c.11218C>T XP_011515150.1:p.Arg3740Trp
XM_011516849.1:c.11143C>T XP_011515151.1:p.Arg3715Trp
XM_011516850.1:c.10843C>T XP_011515152.1:p.Arg3615Trp
XM_011516851.1:c.8107C>T XP_011515153.1:p.Arg2703Trp
XM_011516852.1:c.8107C>T XP_011515154.1:p.Arg2703Trp
XM_011516854.1:c.7000C>T XP_011515156.1:p.Arg2334Trp
XM_005250800.3:c.11221C>T XP_005250857.1:p.Arg3741Trp
XM_005250801.5:c.11221C>T XP_005250858.1:p.Arg3741Trp
XM_011516848.2:c.11218C>T XP_011515150.1:p.Arg3740Trp
XM_011516849.2:c.11143C>T XP_011515151.1:p.Arg3715Trp
XM_011516850.2:c.10843C>T XP_011515152.1:p.Arg3615Trp
XM_011516851.2:c.8107C>T XP_011515153.1:p.Arg2703Trp
XM_011516852.2:c.8107C>T XP_011515154.1:p.Arg2703Trp
XM_011516854.2:c.7000C>T XP_011515156.1:p.Arg2334Trp
XM_017013109.1:c.11026C>T XP_016868598.1:p.Arg3676Trp
XM_017013111.1:c.8107C>T XP_016868600.1:p.Arg2703Trp
XM_017013112.1:c.6778C>T XP_016868601.1:p.Arg2260Trp
XM_024447074.1:c.10006C>T XP_024302842.1:p.Arg3336Trp
NM_017890.5:c.11221C>T MANE Plus Clinical NP_060360.3:p.Arg3741Trp
NM_152564.5:c.11146C>T MANE Select NP_689777.3:p.Arg3716Trp