Canonical Allele Identifier: CA371791722
Gene: VPS13B HGNC NCBI

Linked Data

dbSNP Id: rs1355474839
gnomAD v4: 8-99868297-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868297G>A , CM000670.2:g.99868297G>A GRCh38
NC_000008.10:g.100880525G>A , CM000670.1:g.100880525G>A GRCh37
NC_000008.9:g.100949701G>A NCBI36
NG_007098.2:g.860032G>A , LRG_351:g.860032G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.*393G>A ENSP00000507923.1:n.*393G>A
ENST00000682358.1:n.11369G>A
ENST00000683334.1:c.*6981G>A ENSP00000507369.1:n.*6981G>A
ENST00000357162.7:c.11224G>A MANE Select ENSP00000349685.2:p.Ala3742Thr
ENST00000358544.7:c.11299G>A MANE Plus Clinical ENSP00000351346.2:p.Ala3767Thr
ENST00000357162.6:c.11224G>A ENSP00000349685.2:p.Ala3742Thr
ENST00000358544.6:c.11299G>A ENSP00000351346.2:p.Ala3767Thr
ENST00000493587.1:n.241G>A
NM_017890.4:c.11299G>A , LRG_351t1:c.11299G>A NP_060360.3:p.Ala3767Thr
NM_152564.4:c.11224G>A , LRG_351t2:c.11224G>A NP_689777.3:p.Ala3742Thr
XM_005250800.2:c.11299G>A XP_005250857.1:p.Ala3767Thr
XM_005250801.3:c.11299G>A XP_005250858.1:p.Ala3767Thr
XM_011516848.1:c.11296G>A XP_011515150.1:p.Ala3766Thr
XM_011516849.1:c.11221G>A XP_011515151.1:p.Ala3741Thr
XM_011516850.1:c.10921G>A XP_011515152.1:p.Ala3641Thr
XM_011516851.1:c.8185G>A XP_011515153.1:p.Ala2729Thr
XM_011516852.1:c.8185G>A XP_011515154.1:p.Ala2729Thr
XM_011516854.1:c.7078G>A XP_011515156.1:p.Ala2360Thr
XM_005250800.3:c.11299G>A XP_005250857.1:p.Ala3767Thr
XM_005250801.5:c.11299G>A XP_005250858.1:p.Ala3767Thr
XM_011516848.2:c.11296G>A XP_011515150.1:p.Ala3766Thr
XM_011516849.2:c.11221G>A XP_011515151.1:p.Ala3741Thr
XM_011516850.2:c.10921G>A XP_011515152.1:p.Ala3641Thr
XM_011516851.2:c.8185G>A XP_011515153.1:p.Ala2729Thr
XM_011516852.2:c.8185G>A XP_011515154.1:p.Ala2729Thr
XM_011516854.2:c.7078G>A XP_011515156.1:p.Ala2360Thr
XM_017013109.1:c.11104G>A XP_016868598.1:p.Ala3702Thr
XM_017013111.1:c.8185G>A XP_016868600.1:p.Ala2729Thr
XM_017013112.1:c.6856G>A XP_016868601.1:p.Ala2286Thr
XM_024447074.1:c.10084G>A XP_024302842.1:p.Ala3362Thr
NM_017890.5:c.11299G>A MANE Plus Clinical NP_060360.3:p.Ala3767Thr
NM_152564.5:c.11224G>A MANE Select NP_689777.3:p.Ala3742Thr